Transactivation Function of an ∼800-bp Evolutionarily Conserved Sequence at the SHOX 3′ Region: Implication for the Downstream Enhancer
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference9 articles.
1. A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Léri-Weill dyschondrosteosis;Benito-Sanz;Am J Hum Genet,2005
2. Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX;Blaschke;J Biol Chem,2003
3. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome;Clement-Jones;Hum Mol Genet,2000
4. Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood;Flanagan;J Med Genet,2002
5. Microdeletion in the SHOX 3′ region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer;Fukami;Am J Med Genet A,2005
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1. Identification of a second genetic alteration in patients withSHOXdeficiency individuals: a potential explanation for phenotype variability;European Journal of Endocrinology;2023-09-01
2. SHOX Whole Gene Duplications Are Overrepresented in SHOX Haploinsufficiency Phenotype Cohorts;Cytogenetic and Genome Research;2022
3. Rare dosage abnormalities flanking the SHOX gene;Egyptian Journal of Medical Human Genetics;2021-12
4. Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri‐Weill dyschondrosteosis;Molecular Genetics & Genomic Medicine;2021-11-23
5. The cis-regulatory effects of modern human-specific variants;eLife;2021-04-22
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