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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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出版年: | J Child Orthop |
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主要な著者: | , , , , , , , |
フォーマット: | Artigo |
言語: | Inglês |
出版事項: |
Springer Berlin Heidelberg
2015
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主題: | |
オンライン・アクセス: | 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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