Madelung Deformity
What's New
Last Posted: Mar 09, 2023
- [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 - 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 - Madelung deformity
From NCATS Genetic and Rare Diseases Information Center - 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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Content Summary
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
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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