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Positional cloning of a gene for Hermansky–Pudlak syndrome, a disorder of cytoplasmic organelles
Hermansky–Pudlak syndrome (HPS) is an often–fatal autosomal recessive disease in which albinism, bleeding, and lysosomal storage result from defects of diverse cytoplasmic organelles: melanosomes,Expand
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Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by severe immunologic defects, reduced pigmentation, bleeding tendency, and progressive neurological dysfunction.Expand
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Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism
Autosomal recessive ocular albinism (AROA) is a disorder characterized by reduced pigmentation of the retina and iris, hypoplastic fovea, variably reduced visual acuity and nystagmus. Pigmentation ofExpand
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Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism
Autosomal recessive ocular albinism (AROA) is a disorder characterized by reduced pigmentation of the retina and iris, hypoplastic fovea, variably reduced visual acuity and nystagmus. Pigmentation ofExpand
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Generalized vitiligo and associated autoimmune diseases in Japanese patients and their families.
BACKGROUND Generalized vitiligo is an acquired disorder in which depigmented macules result from the autoimmune loss of melanocytes from the involved regions of skin. Generalized vitiligo isExpand
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Generalized granuloma annulare in a patient with temporal arteritis—are these conditions associated?
A case of generalized granuloma annulare associated with temporal arteritis is described. The patient, a 79‐year‐old man, noticed numerous asymptomatic lesions on his trunk and extremities for 3Expand
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Interleukin 4 receptor α chain polymorphism Gln551Arg is associated with adult atopic dermatitis in Japan
Localization of a locus for atopy to chromosome 16p12–p11 and reported associations of Ile50Val and Gln551Arg polymorphisms in interleukin‐4 receptor α chain (IL 4R gene) with atopy prompted us toExpand
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Guide for medical professionals (i.e. dermatologists) for the management of Rhododenol‐induced leukoderma
Because some users develop depigmentation after the use of melanogenesis‐inhibiting products containing the quasi‐drug ingredient Rhododenol, Japanese Dermatological Association (JDA) established aExpand
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Chédiak‐Higashi Syndrome: Report of a Case and Review of the Japanese Literature
We report the case of a Japanese female infant with Chédiak‐Higashi syndrome born to consanguineous parents. At birth she had fair skin but, when she was three months old, marked hyperpigmentation ofExpand
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TIE2 Gain-of-Function Mutation in a Patient with Pancreatic Lymphangioma Associated with Blue Rubber-Bleb Nevus Syndrome: Report of a Case
Abdominal lymphangioma is a rare tumor in adults. The most common location is the mesentery, but this tumor occasionally develops in the pancreas. We report a case of pancreatic lymphangiomaExpand
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