Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child

Background: Desert hedgehog (DHH), as a member of the Hedgehog (HH) family, is mainly involved in testicular development and peripheral nerve sheath formation. A DHH variant has been identified in patients with 46, XY gonadal dysgenesis (46, XY GD) with or without neuropathy, but few reports mention...

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Detalles Bibliográficos
Autores principales: Pan, Lili, Li, Zhuoguang, Su, Zhe, Su, Wei, Zheng, Rongfei, Chen, Weiyan, He, Xuezhi, Song, Jianming, Li, Shoulin, Wen, Pengqiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9441908/
https://www.ncbi.nlm.nih.gov/pubmed/36072668
http://dx.doi.org/10.3389/fgene.2022.954288

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