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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.