Leri Weill Dyschondrosteosis
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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
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
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- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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