Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles

Background: Hypotrichosis with Recurrent Skin Vesicles (HYPTSV) is an extremely rare condition, having autosomal recessive inheritance. Here in we report a 4-years- old Saudi boy who presented with a history of recurrent skin blisters that are localized to the extremities and hypotrichosis since bir...

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Detalles Bibliográficos
Autores principales: Al Hawsawi, Khalid, Al Jabri, Mazin, Dajam, Mazen S., Almahdi, Bashaer, Alhawsawi, Waseem K., Abbas, Safdar, Al Tuwaijri, Abeer, Umair, Muhammad, Alfadhel, Majid, Al-Khenaizan, Sultan
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/PMC9428628/
https://www.ncbi.nlm.nih.gov/pubmed/36061207
http://dx.doi.org/10.3389/fgene.2022.994509

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9428628/
https://www.ncbi.nlm.nih.gov/pubmed/36061207
http://dx.doi.org/10.3389/fgene.2022.994509

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