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[A large family of Nascimento form of syndromic X-linked intellectual developmental disorder caused by large segment deletion of the UBE2A gene: a case report and literature review]

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This article reports the clinical features and gene mutation types of a large family with Nascimento form of syndromic X-linked intellectual developmental disorder (MRXSN), involving 9 individuals across 3 generations, and a literature review was conducted. In... ...