Article
Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome.
Human molecular genetics - 1 Dec 2002
Prakash Siddharth K, Cormier Trena A, McCall Alanna E, Garcia Jesus J, Sierra Rebecca, Haupt Bisong, Zoghbi Huda Y, Van Den Veyver Ignatia B
Abstract excerpt
Girls with MLS syndrome have microphthalmia with linear skin defects of face and neck, sclerocornea, corpus callosum agenesis and other brain anomalies. This X-linked dominant, male-lethal condition is associated with heterozygous deletions of a critical region in Xp22.31, from the 5' untranslated region of MID1 at the telomeric boundary to the ARHGAP6 gene at the centromeric boundary. HCCS, encoding human...
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