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Nail-Patella Syndrome: A Case Report

Nail-patella syndrome (NPS), also known as hereditary onycho-osteodystrophy (HOOD) is a rare inherited autosomal dominant disease with involvement of the LMX1 gene. We report a case of NPS with atypical involvement of the lip, palate, and lung and discuss the possible genetic associations between NP...

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Hlavní autoři: Annie Hui Nee Law MB BCh BAO, MRCP(UK), MMED, Li Ching Chew BMed Sci, BMBS, MRCP
Médium: Artigo
Jazyk:Inglês
Vydáno: SAGE Publishing 2013-03-01
Edice:Proceedings of Singapore Healthcare
On-line přístup:https://doi.org/10.1177/201010581302200111
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