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Results 1 - 10 of 18 for Waardenburg syndrome
  1. Waardenburg syndrome is a group of conditions passed down through families. The syndrome involves deafness and pale skin, ... Waardenburg syndrome is most often inherited as an autosomal dominant trait. This means only one parent needs to ...
  2. ... not show signs and symptoms of the condition. Waardenburg's syndrome Genetic Testing Registry: Waardenburg syndrome type 1 Genetic ...
  3. ... and symptoms of the condition. Anophthalmia-syndactyly Anophthalmia-Waardenburg syndrome Anophthalmos with limb anomalies Anophthalmos-limb anomalies syndrome ...
  4. ... gene variants have been identified in people with Waardenburg syndrome, a group of genetic conditions that can cause ... and eyes. Specifically, PAX3 gene variants can cause Waardenburg syndrome types I and III.Some of these variants ...
  5. Hearing Disorders and Deafness (National Library of Medicine)  
    It's frustrating to be unable to hear well enough to enjoy talking with friends or family. Hearing disorders make it hard, but not impossible, to hear. They ...
  6. Skin Pigmentation Disorders (National Library of Medicine)  
    Pigmentation means coloring. Skin pigmentation disorders affect the color of your skin. Your skin gets its color from a pigment called melanin. Special cells in the ...
  7. ... SOX10 gene have been identified in people with Waardenburg syndrome type II and type IV (also known as ... disease or Waardenburg-Shah syndrome). Both types of Waardenburg syndrome are characterized by changes in skin, hair, and ...
  8. ... disease is a feature of another condition called Waardenburg syndrome type IV (described below), EDNRB gene variants can also cause Hirschsprung disease in people without Waardenburg syndrome. People with a variant in one of the ...
  9. ... Tietz syndrome may be a severe form of Waardenburg syndrome (described below).The MITF gene variants that cause ... MITF gene have been identified in people with Waardenburg syndrome type II, a disorder that can cause hearing ...
  10. ... disease is a feature of another disorder called Waardenburg syndrome type IV (described below), EDN3 gene variants can also cause Hirschsprung disease in people without Waardenburg syndrome. These variants change one DNA building block (nucleotide) ...
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