Waardenburg syndrome 2A

An autosomal dominant disorder (OMIM:193510) with variable expression and penetrance, which is characterised by sensorineural hearing loss, patchy hair and skin depigmentation.
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.

单词	waardenburg syndrome 2a
释义	Waardenburg syndrome 2A Waardenburg syndrome 2A An autosomal dominant disorder (OMIM:193510) with variable expression and penetrance, which is characterised by sensorineural hearing loss, patchy hair and skin depigmentation. 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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