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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...

詳細記述

保存先:
書誌詳細
出版年:J Child Orthop
主要な著者: Riley, Patrick, Weiner, Dennis S., Leighley, Bonnie, Jonah, David, Morton, D. Holmes, Strauss, Kevin A., Bober, Michael B., Dicintio, Martin S.
フォーマット: Artigo
言語:Inglês
出版事項: Springer Berlin Heidelberg 2015
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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