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一例新发少汗型外胚层发育不良病例的围产期尸检结果

Perinatal Autopsy Findings in a Case of De Novo Hypohidrotic Ectodermal Dysplasia.

作者信息

Chikkannaiah Panduranga, Nagaraju Smitha, Kangle Rajit, Gosavi Mansi

机构信息

Department of Pathology, Employees' State Insurance Corporation Medical College and PGIMSR, Bengaluru, Karnataka, India.

Department of Pathology, Jawaharlal Nehru Medical College, KLE University, Belgaum, Karnataka, India.

出版信息

J Lab Physicians. 2015 Jul-Dec;7(2):131-3. doi: 10.4103/0974-2727.163139.

DOI:10.4103/0974-2727.163139
PMID:26417167
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4559628/
Abstract

Ectodermal dysplasia are group of inherited disorders involving the developmental defects of ectodermal structures like hair, teeth, nails, sweat glands, and others. X-linked recessive inheritance is most common. Here we describe perinatal autopsy findings in a case of de novo ectodermal dysplasia in a female fetus. To the best of our knowledge, this is the first fetal autopsy description in a case of ectodermal dysplasia.

摘要

外胚层发育不良是一组遗传性疾病,涉及毛发、牙齿、指甲、汗腺等外胚层结构的发育缺陷。X连锁隐性遗传最为常见。在此,我们描述了一例女性胎儿新发外胚层发育不良的围产期尸检结果。据我们所知,这是首例关于外胚层发育不良病例的胎儿尸检描述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee96/4559628/0293d2d2006c/JLP-7-131-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee96/4559628/0293d2d2006c/JLP-7-131-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee96/4559628/0293d2d2006c/JLP-7-131-g001.jpg

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1
Ectodermal dysplasia: a genetic review.外胚层发育不良:遗传学综述
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Herpes simplex virus infection in pregnancy.妊娠期单纯疱疹病毒感染
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Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.小鼠dl基因的人类同源基因发生突变会导致常染色体隐性和显性少汗性外胚层发育不良。
Nat Genet. 1999 Aug;22(4):366-9. doi: 10.1038/11937.
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X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.X连锁无汗(少汗)性外胚层发育不良是由一种新型跨膜蛋白的突变引起的。
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