A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome

Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare genetic disorder caused by mutations in the MBTPS2 gene. It is characterized by ichthyosis and alopecia from birth. Photophobia may be present in infancy or early childhood. Its mode of inheritance is X-linked recessive; th...

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Detalles Bibliográficos
Autores principales: Shin, Jun-Oh, Roh, Dongyoung, Shin, Kihyuk, Kim, Woo-Il, Yang, Min-Young, Lee, Won-Ku, Kim, Hoon-Soo, Kim, Byung-Soo, Kim, Moon-Bum, Ko, Hyun-Chang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Dermatological Association; The Korean Society for Investigative Dermatology 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8831308/
https://www.ncbi.nlm.nih.gov/pubmed/35221597
http://dx.doi.org/10.5021/ad.2022.34.1.59

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