Novel genetic cause of idiopathic short stature
활용도 Analysis
논문 Analysis
연구자 Analysis
저자
강민재
제어번호
104940407
학술지명
Annals of Pediatirc Endocrinology & Metabolism
권호사항
Vol.
22
No.
3
[
2017
]
발행처
대한소아내분비학회
발행처 URL
http://www.kspendo.or.kr
자료유형
학술저널
수록면
153-157
언어
English
출판년도
2017
등재정보
KCI등재
판매처
'
Novel genetic cause of idiopathic short stature' 의 참고문헌
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Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
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Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature
Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation
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Heterozygous NPR2 mutations cause disproportionate short stature, similar to Léri-Weill dyschondrosteosis
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Complete SHOX deficiency causes Langer mesomelic dysplasia
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Am J Med Genet 110 158-163
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Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia
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A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan
A novel variant of FGFR3 causes proportionate short stature
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Eur J Endocrinol 172 763-770
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A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis
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Novel genetic cause of idiopathic short stature'
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