A Case with Spondyloenchondrodysplasia Treated with Growth Hormone

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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Bibliographic Details
Main Authors: Takanori Utsumi, Satoshi Okada, Kazushi Izawa, Yoshitaka Honda, Gen Nishimura, Ryuta Nishikomori, Rika Okano, Masao Kobayashi
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-07-01
Series:Frontiers in Endocrinology
Subjects:
spondyloenchondrodysplasia
ACP5
growth hormone deficiency
growth hormone therapy
skeletal dysplasia
Online Access:http://journal.frontiersin.org/article/10.3389/fendo.2017.00157/full

Internet

http://journal.frontiersin.org/article/10.3389/fendo.2017.00157/full

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