نتایج جستجو برای: piebaldism

تعداد نتایج: 207  

Journal: :The Journal of clinical investigation 1992
R A Fleischman

Human piebald trait is an autosomal dominant defect in melanocyte development characterized by patches of hypopigmented skin and hair. Although the molecular basis of piebaldism has been unclear, a phenotypically similar "dominant spotting" of mice is caused by mutations in the murine c-kit protooncogene. In this regard, one piebald case with a point mutation and another with a deletion of c-ki...

Journal: :Indian Journal of Paediatric Dermatology 2017

Journal: :Journal of Kathmandu Medical College 2014

Journal: :Indian pediatrics 2012
Bhaswati Ghoshal Nirmalya Sarkar Mala Bhattacharjee Rabindra Bhattacharjee

A 3 and half years old male child born by consanguineous marriage presented with white forelock and symmetric hypopigmented areas present since birth, similar to his mother and elder sister. Hepatomegaly was noticed at one year of age. Liver biopsy revealed enlarged pale hepatocytes distended with glycogen. Skin biopsy revealed absence of melanin pigment in white depigmented skin. G727T gene ...

Journal: :Indian Journal of Dermatology, Venereology, and Leprology 2014

Journal: :American journal of medical genetics. Part C, Seminars in medical genetics 2004
Yasushi Tomita Tamio Suzuki

The genetic and molecular bases of various types of congenital pigmentary disorders have been classified in the past 10 years, as follows: (1) disorders of melanoblast migration in the embryo from the neural crest to the skin: piebaldism; Waardenburg syndrome 1-4 (WS1-WS4); dyschromatosis symmetrica hereditaria. (2) Disorders of melanosome formation in the melanocyte: Hermansky-Pudlak syndrome ...

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