Skeletal Deformity Associated with SHOX Deficiency - Wikidata - wikimedia - TriplyDB

Skeletal Deformity Associated with SHOX Deficiency

Skeletal Deformity Associated with SHOX Deficiency

http://www.wikidata.org/entity/Q34017467

about

SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene.A Track Record on SHOX: From Basic Research to Complex Models and Therapy Rare congenital chromosomal aberration dic(X;Y)(p22.33;p11.32) in a patient with primary myelofibrosis A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy.Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene

P2860

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P2860

Skeletal Deformity Associated with SHOX Deficiency

http://www.wikidata.org/entity/Q34017467

description

2014 nî lūn-bûn

@nan

2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Skeletal Deformity Associated with SHOX Deficiency

@ast

Skeletal Deformity Associated with SHOX Deficiency

@en

Skeletal Deformity Associated with SHOX Deficiency

@nl

type

label

Skeletal Deformity Associated with SHOX Deficiency

@ast

Skeletal Deformity Associated with SHOX Deficiency

@en

Skeletal Deformity Associated with SHOX Deficiency

@nl

prefLabel

Skeletal Deformity Associated with SHOX Deficiency

@ast

Skeletal Deformity Associated with SHOX Deficiency

@en

Skeletal Deformity Associated with SHOX Deficiency

@nl

P1433

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P2860

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P1433

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

P1476

Skeletal Deformity Associated with SHOX Deficiency

@en

P2093

Atsuhito Seki

http://www.w3.org/2001/XMLSchema#string

Erina Suzuki

http://www.w3.org/2001/XMLSchema#string

Maki Fukami

http://www.w3.org/2001/XMLSchema#string

Shinichiro Takayama

http://www.w3.org/2001/XMLSchema#string

Tomoko Jinno

http://www.w3.org/2001/XMLSchema#string

P2860

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

Madelung deformity: surgical prophylaxis (physiolysis) during the late growth period by resection of the dyschondrosteosis lesion

Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis

Volar ligament release and distal radius dome osteotomy for correction of Madelung's deformity

SHOX haploinsufficiency and overdosage: impact of gonadal function status.

P304

65-72

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P31

scholarly article

P356

10.1297/CPE.23.65

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3

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23

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P50

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2014-07-01T00:00:00Z

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P5875

264628719

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25110390

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P932

4125598

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