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- W2338302467 abstract "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 named ODZ3) was reported in two siblings with isolated bilateral colobomatous microphthalmia from a consanguineous Saudi family. Herein, we report a third patient (not related to the previously reported family) with bilateral colobomatous microphthalmia and developmental delay in whom genetic studies identified a homozygous TENM3 splicing mutation c.2968-2A>T (p.Val990Cysfs*13). This report supports the association of TENM3 mutations with colobomatous microphthalmia and expands the phenotypic spectrum associated with mutations in this gene. © 2016 Wiley Periodicals, Inc." @default.
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- W2338302467 date "2016-04-22" @default.
- W2338302467 modified "2023-10-02" @default.
- W2338302467 title "Confirmation of<i>TENM3</i>involvement in autosomal recessive colobomatous microphthalmia" @default.
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- W2338302467 doi "https://doi.org/10.1002/ajmg.a.37667" @default.
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