Article
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
Human genetics - 1 Sept 2019
Ragge Nicola, Isidor Bertrand, Bitoun Pierre, Odent Sylvie, Giurgea Irina, Cogné Benjamin, Deb Wallid, Vincent Marie, Le Gall Jessica, Morton Jenny, Lim Derek, Le Meur Guylène, Zazo Seco Celia, Zafeiropoulou Dimitra, Bax Dorine, Zwijnenburg Petra, Arteche Anara, Swafiri Saoud Tahsin, Cleaver Ruth, McEntagart Meriel, Kini Usha, Newman William, Ayuso Carmen, Corton Marta, Herenger Yvan, Jeanne Médéric, Calvas Patrick, Chassaing Nicolas
Abstract excerpt
Two distinct syndromes arise from pathogenic variants in the X-linked gene BCOR (BCL-6 corepressor): oculofaciocardiodental (OFCD) syndrome, which affects females, and a severe microphthalmia ('Lenz'-type) syndrome affecting males. OFCD is an X-linked dominant syndrome caused by a variety of BCOR null mutations. As it manifests only in females, it is presumed to be lethal in males. The severe male X-linked...
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