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Updated: Jun 26, 2025

Assessing Signaling Properties of Ectodermal Epithelia During Craniofacial Development
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Assessing Signaling Properties of Ectodermal Epithelia During Craniofacial Development

Published on: March 24, 2011

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像父亲一样,像女儿一样 - - 外皮发育不良-Syndactyly综合征:一个病例报告

Gopika Jith1, Santanu Suba1, Sanjay Kumar Giri1

  • 1Department of Burns & Plastic Surgery, AIIMS, Bhubaneswar, Orissa, India.

The journal of hand surgery Asian-Pacific volume
|May 10, 2024
PubMed
概括

一种罕见的遗传性疾病 - - 皮外性失育症候群1 (EDSS1) 与PVL4基因突变有关. 这份病例报告详细介绍了一个年轻的印度女孩的新型同性异性无意义突变,扩大了已知的EDSS1.1遗传景观.

关键词:
皮外性发育不良症 皮外性发育不良症截皮性失塑-syndactyly综合征是什么在NECTIN 4 4中使用.这种基因是PVL4基因.这是一种Syndactyly.

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