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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-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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