Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
about
The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseasesGenomic insights into growth and its disorders: an update.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.Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature.Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children.
P2860
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P2860
Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
@ast
Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
@en
type
label
Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
@ast
Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
@en
prefLabel
Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
@ast
Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
@en
P2093
P2860
P356
P1476
Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
@en
P2093
Andrew Dauber
Jose Bernardo Quintos
Michael H Guo
P2860
P304
P356
10.1515/JPEM-2014-0450
P577
2015-07-01T00:00:00Z