Orphanet Journal of Rare Diseases
SCOPUS (2006-2025)SCIE-ISI
1750-1172
Cơ quản chủ quản: BioMed Central Ltd. , BMC
Lĩnh vực:
Genetics (clinical)Pharmacology (medical)Medicine (miscellaneous)
Phân tích ảnh hưởng
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Oculocutaneous albinism
Tập 2 Số 1 - 2007
Abstract Oculocutaneous albinism (OCA) is a group of inherited disorders of
melanin biosynthesis characterized by a generalized reduction in pigmentation of
hair, skin and eyes. The prevalence of all forms of albinism varies considerably
worldwide and has been estimated at approximately 1/17,000, suggesting that
about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges,
with O...