Variant: rs28933068 

    present in Gene: FGFR3
    present in Chromosome: 4
    Position on Chromosome: 1805644
    Alleles of this Variant: C/A;G;T

rs28933068 in FGFR3 gene and Craniosynostosis PMID 8589686 1995 A common FGFR3 gene mutation in hypochondroplasia.

PMID 9452043 1998 Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.

PMID 23149434 2012 Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

PMID 23165795 2012 Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.

PMID 25614871 2014 FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.

PMID 7670477 1995 A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.

PMID 11055896 2000 Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

PMID 11754059 2001 Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.

PMID 10360392 1999 Achondroplasia-hypochondroplasia complex in a newborn infant.

rs28933068 in FGFR3 gene and Dysmorphic features PMID 19449410 2009 Significant phenotypic variability of Muenke syndrome in identical twins.

PMID 17033969 2006 A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.

PMID 23740942 2013 New evidence for positive selection helps explain the paternal age effect observed in achondroplasia.

PMID 17935505 2007 Crouzon with acanthosis nigricans. Further delineation of the syndrome.

PMID 15241680 2004 Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.

PMID 18328977 2008 Achondroplasia.

PMID 18344207 2008 A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003.

PMID 16501574 2006 Mutations in different components of FGF signaling in LADD syndrome.

PMID 19098178 2009 Brain and bone abnormalities of thanatophoric dwarfism.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 18000976 2007 Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.

PMID 23165795 2012 Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.

PMID 9677066 1998 Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

PMID 23378035 2013 Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.

PMID 9950359 1999 Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.

PMID 9580776 1998 Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.

PMID 1956068 1991 The frequency of mental retardation in hypochondroplasia.

PMID 8845844 1996 Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

PMID 10053006 1999 A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

PMID 10602123 2000 Epidemiology and genetics of craniosynostosis.

PMID 17950653 2008 Achondroplasia: from genotype to phenotype.

PMID 9450868 1998 Comparison of clinical-radiological and molecular findings in hypochondroplasia.

PMID 7670477 1995 A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.

PMID 7847369 1995 Achondroplasia is defined by recurrent G380R mutations of FGFR3.

PMID 10777366 2000 Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

PMID 12707965 2003 Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

PMID 10213050 1999 "Let's call it ""Crouzonodermoskeletal syndrome"" so we won't be prisoners of our own conventional terminology."

PMID 4078868 1985 Phenotypic variation in LADD syndrome.

PMID 24864036 2014 A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.

PMID 25356217 2013 Growth and development in thanatophoric dysplasia - an update 25 years later.

PMID 25931420 2015 Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis.

PMID 22045636 2012 Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.

PMID 26740388 2016 Muenke syndrome: An international multicenter natural history study.

PMID 26028288 2015 Executive Function and Adaptive Behavior in Muenke Syndrome.

rs28933068 in FGFR3 gene and Hypochondroplasia (disorder) PMID 26380986 2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.