Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.

CONCLUSIONS: This finding illustrates the first reported case of a child with an overlap with Pfeiffer syndrome to have the p.Ala391Glu variant.
PMID: 31016899 [PubMed - as supplied by publisher]

Source: Molecular Medicine - April 22, 2019 Category: Molecular Biology Authors: Rymer K, Shiang R, Hsiung A, Pandya A, Bigdeli T, Webb BT, Rhodes J Tags: Mol Genet Genomic Med Source Type: research