Síndrome de Waardenburg

A Síndrome de Waardenburg é uma doença hereditária que se carateriza essencialmente pela perda de audição e mudanças na coloração do cabelo, da pele e dos olhos. O primeiro a descrever esta doença foi o oftalmologista holandês Petrus Johannes Waardenburg.

Tipos

  • Tipo I: associado a mutações no gene PAX3
  • Tipo IIa: associado a mutações no gene MITF
  • Tipo IIb: associado ao locus WS2B
  • Tipo IIc: associado ao locus WS2C
  • Tipo IId: associado a delecção no gene SNAI2 gene. Muito raro.
  • Tipo III: associado a mutações no gene PAX3
  • Tipo IV: associado a mutações no gene EDNRB

Ligações externas

Fontes

Este artigo incorpora tradução de textos em domínio público de The U.S. National Library of Medicine

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