A Case with Spondyloenchondrodysplasia Treated with Growth Hormone

Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia caused by loss of function mutations in acid phosphatase 5, tartrate resistant (ACP5). Hypomorphic ACP5 mutations impair endochondral bone growth and create an interferon (INF) signature, which lead to distinctive spond...

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Detaylı Bibliyografya
Yayımlandı:Front Endocrinol (Lausanne)
Asıl Yazarlar: Utsumi, Takanori, Okada, Satoshi, Izawa, Kazushi, Honda, Yoshitaka, Nishimura, Gen, Nishikomori, Ryuta, Okano, Rika, Kobayashi, Masao
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2017
Konular:
Endocrinology
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5502255/
https://ncbi.nlm.nih.gov/pubmed/28740483
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2017.00157
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