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.
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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