Camurati-engelmann Disease
What's New
Last Posted: Feb 18, 2023
- Clinical characteristics and the influence of rs1800470 in patients with Camurati-Engelmann disease.
Liang Hanting, et al. Frontiers in endocrinology 2022 0 1041061 - Genetic testing is useful in adults with limited phenotypes of genetic skeletal conditions.
Cottard Marie et al. Bone 2019 Dec 115218 - Camurati Engelmann disease, type 2
From NCATS Genetic and Rare Diseases Information Center - Camurati-Engelmann disease
From NCATS Genetic and Rare Diseases Information Center - A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.
Watanabe Yukio, et al. Journal of human genetics 2002 0 (9) 478-83
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
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- Page last reviewed:Feb 1, 2024
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