Article
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2021
Li Dong, Strong Alanna, Shen Kaitlyn M, Cassiman David, Van Dyck Maria, Linhares Natalia Duarte, Valadares Eugenia Ribeiro, Wang Tiancheng, Pena Sergio D J, Jaeken Jaak, Vergano Samantha, Zackai Elaine, Hing Anne, Chow Penny, Ganguly Arupa, Scholz Tasja, Bierhals Tatjana, Philipp Deindl, Hakonarson Hakon, Bhoj Elizabeth
Abstract excerpt
PURPOSE: Hardikar syndrome (MIM 612726) is a rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy, biliary anomalies, and intestinal malrotation, but with preserved cognition. Only four patients have been reported previously, and none had a molecular diagnosis. Our objective was to identify the genetic basis of Hardikar syndrome (HS) and expand the phenotypic spectrum...
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