Alagille综合征患儿1例临床和遗传学分析：一个包含JAG1基因的染色体新中间缺失的识别
Clinical and genetic study of an infant with Alagille syndrome:identification of a novel chromosomal interstitial deletion including JAG1 gene

DOI: 10.7499/j.issn.1008-8830.2017.10.013

Keywords: Alagille综合征,JAG1基因,二代测序,染色体微阵列,儿童,
Alagille syndrome,JAG1 gene,Next generation sequencing,Chromosomal microarray analysis,Child

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