Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans
ConclusionsThis finding illustrates the first reported case of a child with an overlap with Pfeiffer syndrome to have the p.Ala391Glu variant.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Karen Rymer,
Rita Shiang,
Anting Hsiung,
Arti Pandya,
Tim Bigdeli,
Bradley T. Webb,
Jennifer Rhodes Tags: ORIGINAL ARTICLE Source Type: research