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

Autor:	Patricia Migliavacca, Michele, Ambrosio Fock, Rodrigo, Almeida, Nadia, Cavalcanti, Thereza, Villela, Darine, Alvarez Perez, Ana Beatriz, Valle, David, Wohler, Elizabeth, Lygia de Macena Sobreira, Nara, Raskin, Salmo
Předmět:	ICHTHYOSIS X-linked genetic disorders MISSENSE mutation HUMAN abnormalities SYNDROMES
Zdroj:	Revista Paulista de Pediatria; 2023, Vol. 41, p1-5, 5p
Databáze:	Complementary Index
Externí odkaz:	Zobrazit plný text záznamu