Article
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.
American journal of medical genetics. Part A - 1 Jul 2016
Chassaing Nicolas, Ragge Nicola, Plaisancié Julie, Patat Oliver, Geneviève David, Rivier François, Malrieu-Eliaou Claudie, Hamel Christian, Kaplan Josseline, Calvas Patrick
Abstract excerpt
Anophthalmia and microphthalmia are the most severe malformations of the eye, referring to a congenital absence, and a reduced size of the eyeball respectively. More than 20 genes have been shown to be mutated in patients with syndromic and non-syndromic forms of anophthalmia-microphthalmia. In a recent study combining autozygome and exome analysis, a homozygous loss of function mutation in TENM3 (previously...
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