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==Nail Patella Syndrome== | |||
(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. | |||
:'''Links:''' [[Integumentary_System_-_Nail_Development|Nail Development]] | [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161200 OMIM - nail-patella syndrome] | [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575 OMIM - LMX1B] | |||
===Reference=== | |||
<pubmed>PMID 22145064</pubmed>| [http://www.panafrican-med-journal.com/content/article/9/31/full 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. |
Revision as of 15:34, 27 August 2014
Nail Patella Syndrome
(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.
Reference
<pubmed>PMID 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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