英语词汇“waardenburg syndrome 2 with ocular albinism”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	waardenburg syndrome 2 with ocular albinism
释义	Waardenburg syndrome 2 with ocular albinism Waardenburg syndrome 2 with ocular albinism An autosomal dominant disorder (OMIM:103470) characterised by ocular albinism with sensorineural deafness. Molecular pathology Caused by defects of MITF, which encodes microphthalmia-associated transcription factor, a protein that regulates differentiation and development of melanocytes and retinal pigment epithelium, and is responsible for pigment cell-specific transcription of melanogenesis enzyme genes.
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Waardenburg syndrome 2 with ocular albinism