Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.
about
ACAN mutations as a cause of familial short stature.Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.Novel genetic cause of idiopathic short stature.Ablation of protein phosphatase 5 (PP5) leads to enhanced both bone and cartilage development in mice.A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature.Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children.
P2860
Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.
description
2017 nî lūn-bûn
@nan
2017年の論文
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2017年学术文章
@wuu
2017年学术文章
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2017年学术文章
@zh-cn
2017年学术文章
@zh-hans
2017年学术文章
@zh-my
2017年学术文章
@zh-sg
2017年學術文章
@yue
2017年學術文章
@zh-hant
name
Identification of a novel hete ...... ntervertebral disc herniation.
@en
Identification of a novel hete ...... ntervertebral disc herniation.
@nl
type
label
Identification of a novel hete ...... ntervertebral disc herniation.
@en
Identification of a novel hete ...... ntervertebral disc herniation.
@nl
prefLabel
Identification of a novel hete ...... ntervertebral disc herniation.
@en
Identification of a novel hete ...... ntervertebral disc herniation.
@nl
P2093
P2860
P356
P1476
Identification of a novel hete ...... ntervertebral disc herniation.
@en
P2093
Akiko Nakatomi
Hideo Baba
Hiroyuki Moriuchi
Hitomi Shimizu
Koh-Ichiro Yoshiura
Satoshi Watanabe
Sumito Dateki
Yukiko Inoue
P2860
P2888
P304
P356
10.1038/JHG.2017.33
P577
2017-03-23T00:00:00Z