Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
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Am J Hum Genet. 2012 Dec 7;91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009.
Am J Hum Genet. 2012.
PMID: 23217329
Free PMC article.