Compound heterozygosity ofSHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD)
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference26 articles.
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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. Characterization of SHOX deletions in Léri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots;Benito-Sanz;Am J Hum Genet,2006
4. PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Leri-Weill dyschondrosteosis (LWD) probands;Benito-Sanz;Hum Mutat,2006
5. Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations;Briggs;Hum Mutat,2002
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1. Short stature and SHOX (Short stature homeobox) variants—efficacy of screening using various strategies;PeerJ;2020-11-17
2. Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene;Scientific Reports;2018-09-24
3. Dyschondrosteosis;Atlas of Genetic Diagnosis and Counseling;2017
4. Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region;Journal of Human Genetics;2016-09-08
5. Dyschondrosteosis;Atlas of Genetic Diagnosis and Counseling;2016
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