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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Detalhes bibliográficos
Publicado no:Front Endocrinol (Lausanne)
Main Authors: Utsumi, Takanori, Okada, Satoshi, Izawa, Kazushi, Honda, Yoshitaka, Nishimura, Gen, Nishikomori, Ryuta, Okano, Rika, Kobayashi, Masao
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2017
Assuntos:
Endocrinology
Acesso em linha: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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