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Nail Patella Syndrome - Absent Patella
(NPS) rare (1/50,000) Autosomal dominant disorder characterized by hypoplastic or absent patellae, dystrophic nails, dysplasia of the elbows and iliac horns. Potentially due to mutations in LMX1B, a LIM-homeodomain transcription protein.
- NPS Links: Image - Abnormal Nails | Image - Absent Patella | Nail Development | OMIM - nail-patella syndrome | OMIM - LMX1B | GeneReviews
Reference
<pubmed>22145064</pubmed>| Pan Afr Med J.
Copyright
© Nagendra Boopathy Senguttuvan et al. The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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current | 15:45, 27 August 2014 | 809 × 525 (51 KB) | Z8600021 (talk | contribs) | ==Nail Patella Syndrome - Abnormal Nails== (NPS) rare (1/50,000) Autosomal dominant disorder characterized by hypoplastic or absent patellae, dystrophic nails, dysplasia of the elbows and iliac horns. Potentially due to mutations in LMX1B, a LIM-homeod... |
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