Cartilage hair hypoplasia: characteristics and orthopaedic manifestations

PURPOSE: Cartilage hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia characterized by short stature and short limbs, found primarily in Amish and Finnish populations. Cartilage hair hypoplasia is caused by mutations in the RMRP gene located on chromosome 9p13.3. The disorder has several c...

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Detalles Bibliográficos
Autores principales: Riley, Patrick, Weiner, Dennis S., Leighley, Bonnie, Jonah, David, Morton, D. Holmes, Strauss, Kevin A., Bober, Michael B., Dicintio, Martin S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Original Clinical Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4417732/
https://www.ncbi.nlm.nih.gov/pubmed/25764362
http://dx.doi.org/10.1007/s11832-015-0646-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4417732/
https://www.ncbi.nlm.nih.gov/pubmed/25764362
http://dx.doi.org/10.1007/s11832-015-0646-z

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