Variant: rs28933386 

    present in Gene: PTPN11
    present in Chromosome: 12
    Position on Chromosome: 112477719
    Alleles of this Variant: A/G

rs28933386 in PTPN11 gene and Congenital stenosis of pulmonary valve PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

rs28933386 in PTPN11 gene and Developmental delay (disorder) PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

rs28933386 in PTPN11 gene and Dysmorphic features PMID 9222968 1997 Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).

PMID 4025385 1985 Noonan syndrome: the changing phenotype.

PMID 19467855 2009 The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.

PMID 26297936 2015 Chronic pain in Noonan Syndrome: A previously unreported but common symptom.

PMID 1258892 1976 Multiple lentigines syndrome. Case report and review of the literature.

PMID 21533187 2011 Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

PMID 27619028 2016 Audiological findings in Noonan syndrome.

PMID 8530013 1995 Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1-24.3.

PMID 27521173 2016 Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

PMID 4386970 1968 Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.

PMID 26249544 2015 Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

PMID 21396583 2011 Noonan syndrome and clinically related disorders.

PMID 21500339 2011 Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.

PMID 17056636 2007 Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.

PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

PMID 12960218 2003 Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

PMID 17222357 2007 Noonan syndrome.

PMID 1543375 1992 A clinical study of Noonan syndrome.

rs28933386 in PTPN11 gene and Hypertensive disease PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

rs28933386 in PTPN11 gene and Leopard Syndrome 1 PMID 16399795 2006 Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.

PMID 21567923 2011 Lethal presentation of neurofibromatosis and Noonan syndrome.

PMID 20308328 2010 Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.

PMID 15987685 2005 Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.

PMID 24628801 2014 Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).

PMID 19509418 2009 Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia.

PMID 14974085 2004 Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.

PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 18253957 2008 Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.

PMID 21407260 2011 Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

PMID 28650561 2017 Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

PMID 21340158 2010 Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

PMID 27521173 2016 Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

PMID 28483241 2017 Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

PMID 23726368 2013 Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.

PMID 28957739 2018 Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.

PMID 25912702 2015 [Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

PMID 24803665 2014 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

rs28933386 in PTPN11 gene and Low set ears PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

rs28933386 in PTPN11 gene and Metachondromatosis PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

PMID 21567923 2011 Lethal presentation of neurofibromatosis and Noonan syndrome.

PMID 25912702 2015 [Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

PMID 28650561 2017 Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

PMID 20308328 2010 Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.

PMID 28957739 2018 Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.

PMID 16399795 2006 Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.

PMID 24803665 2014 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

PMID 18253957 2008 Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.

PMID 24628801 2014 Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).

PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 14974085 2004 Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.

PMID 23726368 2013 Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.

PMID 19509418 2009 Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia.

PMID 15987685 2005 Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.

PMID 27521173 2016 Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

PMID 21340158 2010 Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

PMID 28483241 2017 Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

PMID 21407260 2011 Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

rs28933386 in PTPN11 gene and Multiple congenital anomalies PMID 8530013 1995 Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1-24.3.

PMID 21396583 2011 Noonan syndrome and clinically related disorders.

PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

PMID 4386970 1968 Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.

PMID 17222357 2007 Noonan syndrome.

PMID 27619028 2016 Audiological findings in Noonan syndrome.

PMID 4025385 1985 Noonan syndrome: the changing phenotype.

PMID 26249544 2015 Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

PMID 19467855 2009 The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.

PMID 21533187 2011 Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

PMID 26297936 2015 Chronic pain in Noonan Syndrome: A previously unreported but common symptom.

PMID 27521173 2016 Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

PMID 21500339 2011 Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.

PMID 9222968 1997 Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).

PMID 1543375 1992 A clinical study of Noonan syndrome.

PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.

PMID 12960218 2003 Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

PMID 17056636 2007 Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 1258892 1976 Multiple lentigines syndrome. Case report and review of the literature.

rs28933386 in PTPN11 gene and Noonan Syndrome PMID 21590266 2012 Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.

PMID 22190897 2011 RASopathies: Clinical Diagnosis in the First Year of Life.

PMID 15723289 2005 Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.

PMID 21567923 2011 Lethal presentation of neurofibromatosis and Noonan syndrome.

PMID 15001945 2004 Genotype-phenotype correlations in Noonan syndrome.

PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 21340158 2010 Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

PMID 20979190 2010 Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents.

PMID 22465605 2012 Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.

PMID 21407260 2011 Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

PMID 12161469 2002 PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

rs28933386 in PTPN11 gene and Noonan Syndrome 1 PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 12529711 2003 PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.

PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

PMID 12325025 2002 PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

PMID 28483241 2017 Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

PMID 12634870 2003 Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

PMID 27521173 2016 Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 21567923 2011 Lethal presentation of neurofibromatosis and Noonan syndrome.

PMID 28650561 2017 Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

PMID 15987685 2005 Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.

PMID 12960218 2003 Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

PMID 15384080 2004 Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.

PMID 28074573 2017 Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.

PMID 19509418 2009 Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia.

PMID 12739139 2003 Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.

PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

PMID 20308328 2010 Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.

PMID 28957739 2018 Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.

PMID 12161469 2002 PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

PMID 25912702 2015 [Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

PMID 15889278 2005 A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.

PMID 14974085 2004 Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.

PMID 24803665 2014 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

PMID 15948193 2005 Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.

PMID 21407260 2011 Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

PMID 18253957 2008 Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.

PMID 24891296 2014 A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

PMID 21340158 2010 Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

PMID 24628801 2014 Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).

PMID 19020799 2008 PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

PMID 16399795 2006 Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.

PMID 12717436 2003 Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

PMID 23726368 2013 Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.

rs28933386 in PTPN11 gene and Orbital separation excessive PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

rs28933386 in PTPN11 gene and Pediatric failure to thrive PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

rs28933386 in PTPN11 gene and Short stature PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.