Oculocutaneous Albinism Type 1 Diagnosed by Genetic Study in a Newborn Infant / 대한주산의학회잡지
Korean Journal of Perinatology
;
: 195-198, 2013.
Artículo
en 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Padres
/
Cuero Cabelludo
/
Piel
/
Albinismo Oculocutáneo
/
Cabello
/
Melaninas
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
/
Recién Nacido
Idioma:
Coreano
Revista:
Korean Journal of Perinatology
Año:
2013
Tipo del documento:
Artículo
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