Evidence suggesting digenic inheritance of
Waardenburg syndrome type II with ocular
albinism.
期刊名称： American Journal of Medical Genetics Part A
作者： Pei-Wen Chiang,Elaine Spector,Tracy L McGregor
年份： 2010年
期号： 第12期
关键词： oculocutaneous albini保护小朋友
sm;OCA韩语常用语
1;OCA3;pigmentation;Waardenburg
syndrome;MITF;ocular albinism
摘要：Waardenburg syndrome (WS) is a ries of auditory-pigmentary disorders inherite眼睛的睛组词
d in an autoso
mal dominant manner. In most patients, WS2 results from mutations in the MITF gene. MITF encodes a basic helix-loop-helix transcription factor that activates transcription of tyrosina and other melanocyte proteins. The clinical prentation of WS is highly variable, and we believe that Tietz synd安的五行属性
rome and WS2 with ocular albinism (OA) are likely单纯反义词
two variations of WS2 due to the prence of modifiers. One family with a molecular 耗儿鱼怎么做好吃
diagnosis of WS2 co-gregating with OA has previously been reported. A digenic mutation mechanism including both a MITF mutation and the TYR R402Q hypomorph拼写用英语怎么说
ic allele was propod to be the稀饭的英文
cau of OA in this family. Here, we prent a cond WS2 family with OA and provide evidence suggesting the 行文关系
TYR R402Q
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