Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion
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چکیده
منابع مشابه
Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion.
We report a patient with an undetermined leucodystrophy associated with type 1A oculocutaneous albinism (OCA). Type 1 OCA results from recessive mutations in the tyrosinase gene (TYR) located in 11q14.3. The patient was found by FISH to carry a deletion of at least the first exon of the TYR gene on one chromosome and a (TG) deletion at codon 244/245 on the second chromosome. The existence of th...
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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 OCA1A b...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2001
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmg.38.1.35