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A Young Boy with Brittle Hair

Trichothiodystrophy (TTD) is a rare multisystem disorder with an autosomal recessive mode of inheritance. TTD presentations vary from only hair abnormalities like brittle, fragile hair to physical and mental retardation. Mutations of DNA repair genes have been identified as responsible for the disea...

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Detalles Bibliográficos
Autores principales: Tootoonchi, Nassim, Azhari, Vahideh, Razavi, Zahra, Seraji, Shadab, Kianfar, Nika, Mahmoudi, Hamidreza, Daneshpazooh, Maryam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9294941/
https://www.ncbi.nlm.nih.gov/pubmed/35950143
http://dx.doi.org/10.1159/000525383