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WDR62基因突变被发现与小颅畸形症(microcephaly,MCPH)和智力低下密切相关,WDR62基因突变已被公认是造成MCPH的第二大主因。但是,有关WDR62在大脑发育过程中的功能和作用机制,以及WDR62突变如何导致小颅畸形症的致病机制目前尚不清楚。
WDR62 gene mutations were found to be closely associated with microcephaly (MCPH) and mental retardation, and WDR62 gene mutations have been recognized as the second leading cause of MCPH. However, it is unclear whether the function and mechanism of WDR62 during brain development and how the WDR62 mutation causes the pathogenesis of craniofacial malformations.