Novel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patient | Zendy

Mayadhar Barik | Zendy; Minu Bajpai | Zendy; Arun Malhotra | Zendy; J. C. Samantaray | Zendy; Sadananda Dwivedi | Zendy; Sambhunath Das | Zendy

Open Access

Novel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patient

Author(s) -

Mayadhar Barik,

Minu Bajpai,

Arun Malhotra,

J. C. Samantaray,

Sadananda Dwivedi,

Sambhunath Das

Publication year - 2015

Publication title -

journal of pediatric neurosciences

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.247

H-Index - 18

eISSN - 1998-3948

pISSN - 1817-1745

DOI - 10.4103/1817-1745.165659

Subject(s) - craniosynostosis , missense mutation , fibroblast growth factor receptor 1 , exon , medicine , genetics , mutation , fibroblast growth factor receptor , gene , crouzon syndrome , biology , fibroblast growth factor , receptor

Craniosynostosis (CS) syndrome is an autosomal dominant condition classically combining craniosynostosis and non-syndromic craniosynostosis with digital anomalies of the hands and feet. The majority of cases are caused by heterozygous mutations in the third immunoglobulin-like domain (IgIII) of FGFR2, whilst a larger number of cases can be attributed to mutations outside this region of the protein.

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