Article
Recessive LAMC3 mutations cause malformations of occipital cortical development.
Nature genetics - 1 Jun 2011
Barak Tanyeri, Kwan Kenneth Y, Louvi Angeliki, Demirbilek Veysi, Saygı Serap, Tüysüz Beyhan, Choi Murim, Boyacı Hüseyin, Doerschner Katja, Zhu Ying, Kaymakçalan Hande, Yılmaz Saliha, Bakırcıoğlu Mehmet, Cağlayan Ahmet Okay, Oztürk Ali Kemal, Yasuno Katsuhito, Brunken William J, Atalar Ergin, Yalçınkaya Cengiz, Dinçer Alp, Bronen Richard A, Mane Shrikant, Ozçelik Tayfun, Lifton Richard P, Sestan Nenad, Bilgüvar Kaya, Günel Murat
Abstract excerpt
The biological basis for regional and inter-species differences in cerebral cortical morphology is poorly understood. We focused on consanguineous Turkish families with a single affected member with complex bilateral occipital cortical gyration abnormalities. By using whole-exome sequencing, we initially identified a homozygous 2-bp deletion in LAMC3, the laminin γ3 gene, leading to an immediate premature...
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