File:Nail patella syndrome 02.jpg: Difference between revisions
(==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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==Nail Patella Syndrome - | ==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) 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|'''NPS Links''']]: [[:File:Nail patella syndrome 01.jpg|Image - Abnormal Nails]] | [[:File:Nail patella syndrome 02.jpg|Image - Absent Patella]] | [[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] | [http://www.ncbi.nlm.nih.gov/pubmed/20301311 GeneReviews] | ||
===Reference=== | ===Reference=== | ||
Revision as of 15:47, 27 August 2014
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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