Last update 19 Sep 2024

Crouzon Syndrome With Acanthosis Nigricans

Basic Info

Synonyms
CAN, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
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Introduction
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance.

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