Variant: rs137853229 

    present in Gene: RECQL4
    present in Chromosome: 8
    Position on Chromosome: 144513412
    Alleles of this Variant: G/A

rs137853229 in RECQL4 gene and Baller-Gerold syndrome PMID 12734318 2003 Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

PMID 10319867 1999 Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.

PMID 21418107 2011 Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome.

PMID 24635570 2015 Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

PMID 27247962 2016 Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

PMID 18716613 2009 The mutation spectrum in RECQL4 diseases.

PMID 25120469 2014 Rothmund-thomson syndrome: a 13-year follow-up.

rs137853229 in RECQL4 gene and Dysmorphic features PMID 16681588 2006 An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis.

PMID 18716613 2009 The mutation spectrum in RECQL4 diseases.

PMID 18647888 2008 Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status.

PMID 19291770 2009 A patient with Baller-Gerold syndrome and midline NK/T lymphoma.

PMID 24635570 2015 Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

rs137853229 in RECQL4 gene and Multiple congenital anomalies PMID 18716613 2009 The mutation spectrum in RECQL4 diseases.

PMID 19291770 2009 A patient with Baller-Gerold syndrome and midline NK/T lymphoma.

PMID 24635570 2015 Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

PMID 16681588 2006 An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis.

PMID 18647888 2008 Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status.