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[Schaaf-Yang syndrome caused by the new variation of MAGEL2 gene in a case]
- Source :
- Zhonghua er ke za zhi = Chinese journal of pediatrics. 57(2)
- Publication Year :
- 2019
-
Abstract
- 患儿男，2岁6月龄，因"语言发育障碍"就诊。患儿主要表现为语言发育落后和认知理解能力差，无明显肌张力低下或喂养困难，无关节挛缩，全外显子测序发现患儿15号染色体上MAGEL2基因发生c.1640-1641delTT杂合变异，该变异类型未曾见报道，诊断Schaaf-Yang综合征。.
Details
- ISSN :
- 05781310
- Volume :
- 57
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Zhonghua er ke za zhi = Chinese journal of pediatrics
- Accession number :
- edsair.pmid..........601734cf0ea00f85041f55010a7c8a8e