Diagnostic screening identifies a wide range of mutations involving theSHOXgene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect-Reference-Cited by-同舟云学术

Diagnostic screening identifies a wide range of mutations involving theSHOXgene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect

Published:2013-05-01 Issue:6 Volume:161 Page:1329-1338
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.,Baker Kevin R.¹,Harvey John F.,Thomas N. Simon

Affiliation:

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

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35919/fullpdf

Reference35 articles.

1. Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD);Albuisson;Eur J Hum Genet,2012

2. 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

3. Characterisation of SHOX deletions in Léri-Weill dyschondrosteosis reveals genetic heterogeneity and no recombination hotspots;Benito-Sanz;Am J Hum Genet,2006a

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

5. Clinical and molecular evaluation of SHOX/PAR1 duplications in Léri-Weill Dyschondrosteosis (LWD) and idiopathic short stature (ISS);Benito-Sanz;J Clin Endocrinol Metab,2011

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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. Shortened fetal long bones: A notable intrauterine phenotypic feature in SHOX‐associated skeletal dysplasia;Prenatal Diagnosis;2023-08

3. Clinical impact of variants in non-coding regions of SHOX – Current knowledge;Gene;2022-04

4. SHOX Whole Gene Duplications Are Overrepresented in SHOX Haploinsufficiency Phenotype Cohorts;Cytogenetic and Genome Research;2022

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