Article
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
American journal of human genetics - 3 Nov 2016
Jerber Julie, Zaki Maha S, Al-Aama Jumana Y, Rosti Rasim Ozgur, Ben-Omran Tawfeg, Dikoglu Esra, Silhavy Jennifer L, Caglar Caner, Musaev Damir, Albrecht Beate, Campbell Kevin P, Willer Tobias, Almuriekhi Mariam, Çağlayan Ahmet Okay, Vajsar Jiri, Bilgüvar Kaya, Ogur Gonul, Abou Jamra Rami, Günel Murat, Gleeson Joseph G
Abstract excerpt
Cobblestone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and glial cells into the arachnoid space results in the formation of cortical dysplasia. COB occurs in a wide range of genetic disorders known as dystroglycanopathies, which are congenital muscular dystrophies associated with brain and eye anomalies and range from Walker-Warburg syndrome to Fukuyama congenital...
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