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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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Detalles Bibliográficos
Autores principales:	Utsumi, Takanori, Okada, Satoshi, Izawa, Kazushi, Honda, Yoshitaka, Nishimura, Gen, Nishikomori, Ryuta, Okano, Rika, Kobayashi, Masao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2017
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502255/ https://www.ncbi.nlm.nih.gov/pubmed/28740483 http://dx.doi.org/10.3389/fendo.2017.00157

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