article_metadata: Michele Patricia Migliavacca Rodrigo Ambrosio Fock Nadia Almeida Thereza Cavalcanti Darine Villela Ana Beatriz Alvarez Perez David Valle Elizabeth Wohler Nara Lygia de Macena Sobreira Salmo Raskin
article_metadata: 10.1590/1984-0462/2023/41/2022057
article_metadata: Rev Paul Pediatr
article_metadata: 2023 Apr 7;41:e2022057.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/37042943/
article_metadata: Ichthyosis / complications Ichthyosis / diagnosis Ichthyosis / genetics Ichthyosis, Lamellar / complications Ichthyosis, Lamellar / diagnosis Ichthyosis, Lamellar / genetics
article_metadata: Ichthyosis / complications Ichthyosis / diagnosis Ichthyosis / genetics Ichthyosis, Lamellar / complications Ichthyosis, Lamellar / diagnosis Ichthyosis, Lamellar / genetics Case Reports Alopecia / diagnosis Alopecia / genetics Alopecia / pathology Brazil Humans Male Metalloendopeptidases / genetics Syndrome Metalloendopeptidases MBTPS2 protein, human
article_metadata: PMC10108828
article_metadata: 37042943
article_metadata: A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
article_metadata: 2023