Article
A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males.
American journal of medical genetics. Part A - 1 Apr 2018
Spencer Careni, Lombaard Hendrik, Wise Amy, Krause Amanda, Robertson Stephen P
Abstract excerpt
Melnick-Needles syndrome (MNS; MIM 309350) is an X-linked skeletal dysplasia caused by mutations in FLNA. Females with the condition present with characteristic facial features, short stature, skeletal anomalies, including poorly modeled and sclerotic bones, and structural abnormalities such as cardiac and urological defects. Previously males were thought to present with either a mild phenotype compatible with...
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