Genotypes and phenotypes of children with SHOX deficiency in France.
about
SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short StatureIdentification of novel SHOX target genes in the developing limb using a transgenic mouse modelGrowth hormone treatment in non-growth hormone-deficient childrenSkeletal Deformity Associated with SHOX DeficiencyGenetic evaluation of short stature.Tbx4 interacts with the short stature homeobox gene Shox2 in limb development.A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene.Safety Outcomes and Near-Adult Height Gain of Growth Hormone-Treated Children with SHOX Deficiency: Data from an Observational Study and a Clinical Trial.Phenotypic characterization of patients with deletions in the 3'-flanking SHOX region.Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature.A Track Record on SHOX: From Basic Research to Complex Models and TherapyRetinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.Height matters-from monogenic disorders to normal variation.Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature.Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity.SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester.Microscopic chromosome Xp distal deletions--a challenging issue in prenatal genetic counseling.Prevalence of SHOX haploinsufficiency among short statured children.Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.
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P2860
Genotypes and phenotypes of children with SHOX deficiency in France.
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
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2012年學術文章
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2012年學術文章
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name
Genotypes and phenotypes of children with SHOX deficiency in France.
@en
Genotypes and phenotypes of children with SHOX deficiency in France.
@nl
type
label
Genotypes and phenotypes of children with SHOX deficiency in France.
@en
Genotypes and phenotypes of children with SHOX deficiency in France.
@nl
prefLabel
Genotypes and phenotypes of children with SHOX deficiency in France.
@en
Genotypes and phenotypes of children with SHOX deficiency in France.
@nl
P2093
P356
P1476
Genotypes and phenotypes of children with SHOX deficiency in France.
@en
P2093
Céline Huber-Lequesne
Hélène Sapin
Jean-Claude Carel
Myriam Rosilio
Werner F Blum
P304
P356
10.1210/JC.2011-3460
P407
P577
2012-04-19T00:00:00Z