Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.
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SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short StatureCatalytically Active Guanylyl Cyclase B Requires Endoplasmic Reticulum-mediated Glycosylation, and Mutations That Inhibit This Process Cause DwarfismGenomic insights into growth and its disorders: an update.The Biology of StatureA Track Record on SHOX: From Basic Research to Complex Models and TherapyNovel genetic cause of idiopathic short stature.Circulating osteocrin stimulates bone growth by limiting C-type natriuretic peptide clearance.Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.The Absence of Sensory Axon Bifurcation Affects Nociception and Termination Fields of Afferents in the Spinal Cord.Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.Rats deficient C-type natriuretic peptide suffer from impaired skeletal growth without early death.Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
P2860
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P2860
Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Heterozygous NPR2 Mutations Ca ...... Léri-Weill Dyschondrosteosis.
@en
type
label
Heterozygous NPR2 Mutations Ca ...... Léri-Weill Dyschondrosteosis.
@en
prefLabel
Heterozygous NPR2 Mutations Ca ...... Léri-Weill Dyschondrosteosis.
@en
P2093
P356
P1476
Heterozygous NPR2 Mutations Ca ...... o Léri-Weill Dyschondrosteosis
@en
P2093
Alberta Belinchón
Alexander A Jorge
Alfonso Hisado-Oliva
Ana C Barreda-Bonis
Ana I Garre-Vázquez
Cristina Luzuriaga
Fabiola Santaolalla-Caballero
Gabriela A Vasques
Gianni Carlone
Isabel González-Casado
P304
P356
10.1210/JC.2015-1612
P407
P577
2015-06-15T00:00:00Z