CHARGESyndrome相关论文
目的:对n CHD7新发变异所致CHARGE综合征病例进行临床表型及相关基因分析,丰富CHARGE综合征临床表型,探讨其可能的遗传学病因。......
Clinical Diagnosis by Next-Generation Sequencing for a Patient with Syndromic Disorders of Sex Devel
Objective: Disorders of sex development (DSD) are rare disorders in which there is discordance between chromosomal,gonad......