Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome

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...

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Опубликовано в: :Ann Neurol
Главные авторы: Guemez-Gamboa, Alicia, Çağlayan, Ahmet Okay, Stanley, Valentina, Gregor, Anne, Zaki, Maha, 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, Gali, Heimer, Pillar, Nir, Shomron, Noam, Weissglas-Volkov, Daphna, Porat, Yuval, Einhorn, Yaron, Gabriel, Stacey, Ben-Zeev, Bruria, Gunel, Murat, Gleeson, Joseph G.
Формат: Artigo
Язык:Inglês
Опубликовано: 2018
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6510237/
https://ncbi.nlm.nih.gov/pubmed/30178464
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.25327
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