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Results 1 - 6 of 6 for piebaldism OR "albinism," partial OR Waardenburg syndrome
  1. Piebaldism 
    ... 1523-1747.ep12399455. Citation on PubMed Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan Med Surg. 1997 Mar;16(1):15-23. doi: 10.1016/s1085-5629(97)80031-4. Citation on ... MD, Janniger CK, Schwartz RA. Piebaldism: an update. Int J Dermatol. 2004 Oct;43( ...
    https://medlineplus.gov/genetics/condition/piebaldism - Genetics
  2. KIT gene 
    ... 1523-1747.ep12399455. Citation on PubMed Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan Med Surg. 1997 Mar;16(1):15-23. doi: 10.1016/s1085-5629(97)80031-4. Citation on ... MD, Janniger CK, Schwartz RA. Piebaldism: an update. Int J Dermatol. 2004 Oct;43( ...
    https://medlineplus.gov/genetics/gene/kit - Genetics
  3. Griscelli syndrome 
    ... symptoms of the condition. GS Hypopigmentation immunodeficiency disease Partial albinism with immunodeficiency Genetic Testing Registry: Griscelli syndrome type 1 Genetic Testing Registry: Griscelli syndrome type ...
    https://medlineplus.gov/genetics/condition/griscelli-syndrome - Genetics
  4. MITF gene 
    ... Winter RM. Mutation of the MITF gene in albinism-deafness syndrome (Tietz ... three genes altered in Waardenburg syndrome. Hum Mol Genet. 2000 Aug 12;9( ...
    https://medlineplus.gov/genetics/gene/mitf - Genetics
  5. Tietz syndrome 
    ... represent a severe form of a disorder called Waardenburg syndrome, which can also be caused by MITF gene mutations. ... Albinism and complete nerve deafness Albinism-deafness of Tietz ...
    https://medlineplus.gov/genetics/condition/tietz-syndrome - Genetics
  6. SNAI2 gene 
    ... About This Health Condition In some cases of Waardenburg syndrome type II, both copies of the SNAI2 gene ... loss of pigmentation that are characteristic features of Waardenburg syndrome type II. More About This Health Condition neural ...
    https://medlineplus.gov/genetics/gene/snai2 - Genetics