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leukoderma
- ... ear leads to hearing loss. Decreased melanin production (hypopigmentation) accounts for the light skin and hair color ... and complete nerve deafness Albinism-deafness of Tietz Hypopigmentation-deafness syndrome Hypopigmentation/deafness of Tietz Tietz albinism- ...
- ... disorder have areas of unusually light-colored skin (hypopigmentation), typically on the arms and legs, and spots ... melanin transport and keratinocyte development leads to the hypopigmentation and keratoderma that occurs in Cole disease. The ...
- ... show signs and symptoms of the condition. GS Hypopigmentation immunodeficiency disease Partial albinism with immunodeficiency Genetic Testing ... de Saint Basile G. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a ...
- Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). In addition, hair on these regions of skin can also lose pigment and appear white. ...
- Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin ...
- ... ear leads to hearing loss. Decreased melanin production (hypopigmentation) accounts for the light skin and hair color ... Kelley PM, Kenyon JB, Hoover D. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med ...
- ... Katsambas AD. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Exp ... PubMed Central Wei AH, He X, Li W. Hypopigmentation in Hermansky-Pudlak syndrome. J Dermatol. 2013 May; ...
- ... and other people with the same ethnic background (hypopigmentation). They may also experience clouding of the lenses ... Gambarara syndrome Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum Genetic Testing Registry: Vici ...
- ... Katsambas AD. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Exp ... Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum ...
- ... disorder have areas of unusually light-colored skin (hypopigmentation), typically on the arms and legs, and spots ... in melanin transport and keratinocyte development leads to hypopigmentation and keratoderma. The mutations may also impair the ...