Waardenburg syndrome type 2D

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Waardenburg syndrome type 2D

A genetically heterogeneous, autosomal dominant disorder (OMIM:608890) characterised by sensorineural deafness, pigment defects and absent dystopia canthorum.

Molecular pathology
Caused by defects of SNAI2, which encodes a zinc finger transcription repressor involved in epithelial-mesenchymal transitions and in the generation and migration of neural crest cells.
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