Leri Weill Dyschondrosteosis
What's New
Last Posted: Oct 03, 2023
- SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries.
Priyanka Srivastava, et al. Journal of clinical research in pediatric endocrinology 2023 0 - SHOX whole gene duplications are over-represented in SHOX haploinsufficiency phenotype cohorts.
Bunyan David J, et al. Cytogenetic and genome research 2023 0 - [The prevalence of SHOX gene deletion in children with idiopathic short stature. A multicentric study].
Dávid Anna, et al. Orvosi hetilap 2017 0 (34) 1351-1356 - Short stature and SHOX (Short stature homeobox) variants-efficacy of screening using various strategies.
Capkova Pavlina, et al. PeerJ 2020 0 e10236 - SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.
Aza-Carmona Miriam, et al. Human molecular genetics 2011 0 (8) 1547-59 - Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.
Hirschfeldova Katerina, et al. Journal of human genetics 2016 10 - Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.
Auger Julie, et al. Hormone research in paediatrics 2016 9 - Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.
Shima Hirohito, et al. Journal of human genetics 2016 3 - Leri Weill dyschondrosteosis
From NCATS Genetic and Rare Diseases Information Center - Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.
D'haene Barbara, et al. The Journal of clinical endocrinology and metabolism 2010 6 (6) 3010-8 - Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.
Rappold Gudrun A, et al. The Journal of clinical endocrinology and metabolism 2002 3 (3) 1402-6
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
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