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外胚层发育异常(ED)影响外胚层衍生结构发育,严重影响患者生活。伊朗研究人员针对 ED 开展研究,通过全外显子测序(WES)发现 EDARADD 基因新变异 c.36dupT,明确其遗传模式。该研究助力精准诊断与个性化治疗。
来自MSN1 个月
British tennis star breaks her silence after collapsing during a match and leaving court in ...Jones was born without two fingers and three toes due to the rare medical condition Ectrodactyly Ectodermal Dysplasia Syndrome, and was told to forget about playing tennis professionally by doctors.
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