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NAIL – PATELLA SYNDROME

Tavares-Bello, Rui; Baptista, Juliana; Silvério, Cristina; Araújo Pinheiro, Luis

Nail-Patella Syndrome (OMIN 161200) (Hereditary Onychodysplasia), first reported by Chatelain in 1820, is a rare polymalformative syndrome that affects tissues of both ecto and mesodermal origin. It is an inherited disorder, transmitted as an autosomal dominant trait, having the responsible gene been mapped to 9q34 and further characterized as encoding for a LIM-homeodomain protein that plays a pivotal role in ...

Date: 2011   |   Origin: Revista da Sociedade Portuguesa de Dermatologia e Venereologia
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