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Updated: Feb 10, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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在ABCA12基因中发现了一种新突变,该基因导致了哈雷金雄心症

Nadia Soltani1, Zahra Bayati2, Mohsen Soosanabadi3

  • 1Student Research Committee, School of Medicine Arak University of Medical Sciences Arak Iran.

Clinical case reports
|February 9, 2026
PubMed
概括

哈勒金雄性病 (HI) 是一种严重的皮肤疾病,由ABCA12基因突变引起. 研究人员在伊朗一名婴儿身上发现了一种新奇的突变,这有助于对受影响家庭进行遗传诊断和咨询.

关键词:
在ABCA12中,ABCA12是ABCA12中的一个.哈雷奎因 Ichthyosis 这种疾病.突变是一种突变.整体外基因组测序的测序

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