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Fabry's disease manifesting as familial angiokeratoma corporis diffusum in an indian family – A rare occurrence!

Fabry's disease is a rare X-linked dermatosis, resulting from alpha-galactosidase deficiency and presents with both cutaneous (angiokeratoma, acral paresthesia, and hypohidrosis) and extracutaneous manifestations (ocular, cardiac, renal, and neurological). We report two brothers age 16 and 14 years...

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Auteurs principaux: Ishmeet Kaur, Archana Singal, Deepak Jakhar, Deepika Pandhi
Format: Artigo
Langue:Inglês
Publié: Wolters Kluwer Medknow Publications 2020-01-01
Collection:Indian Journal of Paediatric Dermatology
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Accès en ligne:http://www.ijpd.in/article.asp?issn=2319-7250;year=2020;volume=21;issue=4;spage=319;epage=322;aulast=Kaur
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