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Oculocutaneous Albinism Type 1 Diagnosed by Genetic Study in a Newborn Infant / 대한주산의학회잡지
Korean Journal of Perinatology ; : 195-198, 2013.
Article in Korean | 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.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Parents / Scalp / Skin / Albinism, Oculocutaneous / Hair / Melanins Type of study: Diagnostic study Limits: Humans / Infant, Newborn Language: Korean Journal: Korean Journal of Perinatology Year: 2013 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Parents / Scalp / Skin / Albinism, Oculocutaneous / Hair / Melanins Type of study: Diagnostic study Limits: Humans / Infant, Newborn Language: Korean Journal: Korean Journal of Perinatology Year: 2013 Type: Article