Síndrome de Netherton: relato de caso

• Główni autorzy: Sabrina Hernandes Conceição (Autor), Gabriela Teodoro Machado (Autor), Edmara Laura Campiolo (Autor), João Ricardo Azevedo Silva (Autor)
• Format: Książka
• Wydane: Sociedade Brasileira de Pediatria, 2023-03-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

INTRODUCTION: Netherton Syndrome (NS), one of the most serious disorders of cornification, is an autosomal recessive disease characterized by a mutation in the SPINK5 gene on chromosome 5q32. Its incidence is estimated at 1: 100,000 to 1: 200.00 live births, with a variable phenotype among patients....