Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

doi:10.1002/ana.25327

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Article

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

Annals of neurology - 1 Nov 2018

Guemez-Gamboa Alicia, Çağlayan Ahmet Okay, Stanley Valentina, Gregor Anne, Zaki Maha S, Saleem Sahar N, Musaev Damir, McEvoy-Venneri Jennifer, Belandres Denice, Akizu Naiara, Silhavy Jennifer L, Schroth Jana, Rosti Rasim Ozgur, Copeland Brett, Lewis Steven M, Fang Rebecca, Issa Mahmoud Y, Per Huseyin, Gumus Hakan, Bayram Ayse Kacar, Kumandas Sefer, Akgumus Gozde Tugce, Erson-Omay Emine Z, Yasuno Katsuhito, Bilguvar Kaya, Heimer Gali, Pillar Nir, Shomron Noam, Weissglas-Volkov Daphna, Porat Yuval, Einhorn Yaron, Gabriel Stacey, Ben-Zeev Bruria, Gunel Murat, Gleeson Joseph G

Abstract excerpt

OBJECTIVE: To identify causes of the autosomal-recessive malformation, diencephalic-mesencephalic junction dysplasia (DMJD) syndrome. METHODS: Eight families with DMJD were studied by whole-exome or targeted sequencing, with detailed clinical and radiological characterization. Patient-derived induced pluripotent stem cells were derived into neural precursor and endothelial cells to study gene expression. RESULTS:...

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PMID: 30178464
DOI: 10.1002/ana.25327
PMCID: PMC6510237

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