白化病
色素减退
发育不良
医学
遗传学
赫尔曼斯基-普德拉克综合征
表型
生物
基因
病理
解剖
肺纤维化
纤维化
出处
期刊:Current Opinion in Pediatrics
[Ovid Technologies (Wolters Kluwer)]
日期:1999-12-01
卷期号:11 (6): 565-571
被引量:35
标识
DOI:10.1097/00008480-199912000-00016
摘要
Albinism was one of the first genetic diseases to be noted in humans, but until relatively recently, little was known of the molecular mechanisms involved in its pathogenesis. Recent advances have shown us that mutations in at least seven different genes can cause a reduction in melanin pigment biosynthesis, producing the various associated clinical features associated with albinism, including hypopigmentation of the skm, hair, and eyes; optic track misrouting; foveal hypoplasia; and reduced visual acuity. Analysis of mutations in these seven genes has revealed that the phenotypic spectrum associated with albinism is broad, mating molecular analysis an important part in the accurate diagnosis of this disease.
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