Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.
Karen RymerRita ShiangAnting HsiungArti PandyaTim BigdeliBradley T WebbJennifer RhodesPublished in: Molecular genetics & genomic medicine (2019)
This finding illustrates the first reported case of a child with an overlap with Pfeiffer syndrome to have the p.Ala391Glu variant.
Keyphrases