Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Akemi J. Tanaka, Megan T. Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi, Dmitriy Niyazov, Adolfo Garnica, Edward Gratz, Matthew Deardorff, Alisha Wilkins, Xilma Ortiz-Gonzalez, Katherine Mathews, Karin Panzer, Eva Brilstra, Koen L.I. Van Gassen, Catharina M.L. Volker-Touw, Ellen Van Binsbergen, Nara Sobreira, Ada HamoshDianalee McKnight, Kristin G. Monaghan, Wendy K. Chung

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118 Scopus citations

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Medicine & Life Sciences