File:Nail patella syndrome 02.jpg
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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
- Links: Limb Development | Limb Abnormalities | Appendicular Skeleton |
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.
Cite this page: Hill, M.A. (2024, April 19) Embryology Nail patella syndrome 02.jpg. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/File:Nail_patella_syndrome_02.jpg
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G
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| Date/Time | Thumbnail | Dimensions | User | Comment | |
|---|---|---|---|---|---|
| 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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