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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Detaylı Bibliyografya
Yayımlandı:J Child Orthop
Asıl Yazarlar: Riley, Patrick, Weiner, Dennis S., Leighley, Bonnie, Jonah, David, Morton, D. Holmes, Strauss, Kevin A., Bober, Michael B., Dicintio, Martin S.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Berlin Heidelberg 2015
Konular:
Original Clinical Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4417732/
https://ncbi.nlm.nih.gov/pubmed/25764362
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11832-015-0646-z
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