Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature.

about

Duplication of Yq- and proximal Yp-arms with deletion of almost all PAR1 (including SHOX) in a young man with non-obstructive azoospermia, short stature and skeletal defects.An Association of and Mutations in a Male Presenting With Syndromic Growth Failure

P2860

Q50091889-E170650F-6A8A-45B8-B85E-3117A7CF6CFE Q57191695-9823E5BA-3D79-417B-9C2B-F66754D14CBF

P2860

Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature.

Item

http://www.wikidata.org/entity/Q36887566

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

@zh-cn

name

Short Stature in Isodicentric ...... port and Review of Literature.

@en

type

Item

label

Short Stature in Isodicentric ...... port and Review of Literature.

@en

prefLabel

Short Stature in Isodicentric ...... port and Review of Literature.

@en

P1476

Short Stature in Isodicentric ...... port and Review of Literature.

@en

P2093

Angela Michelucci

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

Angelo Valetto

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

Benedetta Toschi

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

Eleonora Dati

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

Giampietro I Baroncelli

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

Silvano Bertelloni

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

Veronica Bertini

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

P2860

PHOG, a candidate gene for involvement in the short stature of Turner syndrome

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

Etiologies and early diagnosis of short stature and growth failure in children and adolescents.

Structural and numerical changes of chromosome X in patients with esophageal atresia

Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chrom

Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes.

High incidence of SHOX anomalies in individuals with short stature.

SHOX at a glance: from gene to protein.

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency

Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Wor

P304

19-25

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

P31

scholarly article

P356

10.1159/000444430

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

P433

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

P478

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

P577

2016-03-12T00:00:00Z

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

P698

27194969

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

P932

4862393

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

Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature.

about

P2860

P2860

Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932