Article
Frontometaphyseal dysplasia and keloid formation without FLNA mutations.
American journal of medical genetics. Part A - 1 Jun 2015
Basart Hanneke, van de Kar Annekatrien, Adès Lesley, Cho Tae-Joon, Carter Erin, Maas Saskia M, Wilson Louise C, van der Horst Chantal M A M, Wade Emma M, Robertson Stephen P, Hennekam Raoul C
Abstract excerpt
Frontometaphyseal dysplasia (FMD) is a distinctive sclerosing skeletal dysplasia associated with a number of non-skeletal manifestations including hearing loss, cardiac malformations, and stenosis, particularly of the upper airway and urinary tract. Some, but not all, patients have mutations in FLNA causing the condition. Consonant with the X chromosomal location of FLNA males are generally more severely affected...
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