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单词 Tietz syndrome
释义

Tietz syndrome

英语百科

Tietz syndrome

Tietz syndrome has an autosomal dominant pattern of inheritance.

Tietz syndrome, also called Tietz albinism-deafness syndrome or albinism and deafness of Tietz, is an autosomal dominant congenital disorder characterized by deafness and leucism. It is caused by a mutation in the microphthalmia-associated transcription factor (MITF) gene. Tietz syndrome was first described in 1963.

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更新时间:2025/6/23 23:42:22