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Clinical and experimental dermatology · 1992

Hereditary hypotrichosis (Marie-Unna type) and juvenile macular degeneration (Stargardt's maculopathy).

Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Marren P, Wilson C, Dawber R P, Walshe M M

Аннотация

Hypotrichosis of the Marie-Unna variety is a distinctive syndrome eponymously named following a publication in 1925 describing a family in which 27 individuals in seven generations were affected by a previously unreported type of hypotrichosis. Its inheritance is determined by an autosomal dominant gene and it usually occurs as an isolated abnormality. Hereditary macular degeneration (Stargardt's maculopathy) is also well recognized and has been reported in one family in association with alopecia areata but never in association with Marie-Unna hypotrichosis. Inheritance of Stargardt's maculopathy is autosomal recessive. Our patient demonstrates the co-existence of these two uncommon genetic disorders and it would appear that both defects have been independently inherited.

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты