Oculocutaneous Albinism Type 1 Diagnosed by Genetic Study in a Newborn Infant / 대한주산의학회잡지
Korean Journal of Perinatology
;
: 195-198, 2013.
Artigo
em Coreano
| WPRIM
| ID: wpr-213464
ABSTRACT
Oculocutaneous Albinism (OCA) is a heterogenous autosomal recessive disorder characterized by defective melanin biosynthesis. Physical findings including white scalp hair and depigmented skin of whole body in newborn infants are important clinical features of OCA 1. We report a newborn case of OCA 1 with two different TYR mutations, and gene defects of the baby revealed to be originated from both parents carriers of OCA.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pais
/
Couro Cabeludo
/
Pele
/
Albinismo Oculocutâneo
/
Cabelo
/
Melaninas
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
/
Recém-Nascido
Idioma:
Coreano
Revista:
Korean Journal of Perinatology
Ano de publicação:
2013
Tipo de documento:
Artigo
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