Article
Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.
American journal of medical genetics. Part A - 1 Dec 2021
Wade Emma M, Jenkins Zandra A, Morgan Tim, Gimenez Gregory, Gibson Hayley, Peng Hui, Sanchez Russo Rossana, Skraban Cara M, Bedoukian Emma, Robertson Stephen P
Abstract excerpt
Pathogenic variation in the X-linked gene FLNA causes a wide range of human developmental phenotypes. Loss-of-function is usually male embryonic-lethal, and most commonly results in a neuronal migration disorder in affected females. Gain-of-function variants cause a spectrum of skeletal dysplasias that present with variable additional, often distinctive, soft-tissue anomalies in males and females. Here we present...
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