Homozygosity for a novel deletion downstream of theSHOXgene provides evidence for an additional long range regulatory region with a mild phenotypic effect-Reference-Cited by-同舟云学术

Homozygosity for a novel deletion downstream of theSHOXgene provides evidence for an additional long range regulatory region with a mild phenotypic effect

Published:2014-08-13 Issue:11 Volume:164 Page:2764-2768
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bunyan David J.¹,Taylor Emma-Jane¹,Maloney Vivienne K.¹,Blyth Moira²

Affiliation:

1. Wessex Regional Genetics Laboratory; Salisbury District Hospital; Salisbury Wiltshire SP2 8BJ UK

2. Department of Clinical Genetics; Chapel Allerton Hospital; Chapeltown Road Leeds West Yorkshire LS7 4SA UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference22 articles.

1. A novel class of pseudoautosomal region 1 (PAR1) deletions downstream of SHOX is associated with Léri-Weill dyschondrosteosis (LWD);Benito-Sanz;Am J Hum Genet,2005

2. PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis patients;Benito-Sanz;Hum Mutation,2006

3. Identification of the first recurrent PAR1 deletion in Léri-Weill Dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer;Benito-Sanz;J Med Genet,2012

4. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy;Brais;Nat Genet,1998

5. Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5kb deletion 160kb downstream with a variable phenotypic effect;Bunyan;Am J Med Genet Part A,2013

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1. Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX;European Journal of Human Genetics;2024-06-24

2. Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities;Gene;2024-01

3. Genetic analysis, ultrasound phenotype, and pregnancy outcomes of fetuses with Xp22.33 or Yp11.32 microdeletions;Journal of Perinatal Medicine;2023-10-18

4. Rare Dosage Abnormalities – Copy Number Variations Flanking the SHOX Gene;Acta Endocrinologica (Bucharest);2023

5. SHOX far‐downstream deletion in a patient with nonsyndromic short stature;American Journal of Medical Genetics Part A;2022-03-23