A second family with CATSHL syndrome: Confirmatory report of another unique  FGFR3  syndrome | Zendy

Escobar Luis F. | Zendy; Tucker Megan | Zendy; Bamshad Michael | Zendy

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A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome

Author(s) -

Escobar Luis F.,

Tucker Megan,

Bamshad Michael

Publication year - 2016

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.37676

Subject(s) - penetrance , mutation , fibroblast growth factor receptor 3 , genetics , phenotype , fibroblast growth factor , fibroblast growth factor receptor 1 , gene , medicine , biology , receptor

Here we describe the second reported family with the CATSHL syndrome, a condition resulting from a unique mutation in the fibroblast growth factor receptor 3 ( FGFR3 ) gene. Our family confirms the consistent and unique phenotype of this condition, and the specificity of the mutation in FGFR3 . The CATSHL syndrome appears to be an autosomal dominant disorder with full penetrance. © 2016 Wiley Periodicals, Inc.

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