A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2

OBJECTIVE: The classic triad, which defines IFAP syndrome, is ichthyosis follicularis, alopecia, and photophobia. It is a rare X-linked genetic disorder characterized by multiple congenital anomalies with variable severity, caused by pathogenic variants in the MBTPS2 gene, which encodes a zinc metal...

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Detalles Bibliográficos
Autores principales: Migliavacca, Michele Patricia, Fock, Rodrigo Ambrosio, Almeida, Nadia, Cavalcanti, Thereza, Villela, Darine, Perez, Ana Beatriz Alvarez, Valle, David, Wohler, Elizabeth, Sobreira, Nara Lygia de Macena, Raskin, Salmo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade de Pediatria de São Paulo 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10108828/
https://www.ncbi.nlm.nih.gov/pubmed/37042943
http://dx.doi.org/10.1590/1984-0462/2023/41/2022057

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