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
10.1590/1984-0462/2023/41/2022057
Rev Paul Pediatr
2023 Apr 7;41:e2022057.
CC BY
https://pubmed.ncbi.nlm.nih.gov/37042943/
Ichthyosis / complications Ichthyosis / diagnosis Ichthyosis / genetics Ichthyosis, Lamellar / complications Ichthyosis, Lamellar / diagnosis Ichthyosis, Lamellar / genetics
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
PMC10108828
37042943
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
2023