Albright's Hereditary Osteodystrophy
Last Posted: Sep 24, 2015
- Pseudohypoparathyroidism - epidemiology, mortality and risk of complications.
Underbjerg Line, et al. Clinical endocrinology 2015 9
- Clinical utility gene card for: pseudohypoparathyroidism.
- Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XL?s in fetal development.
Richard Nicolas, et al. The Journal of clinical endocrinology and metabolism 2013 9 (9) E1549-56
- Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.
Fernández-Rebollo Eduardo, et al. The Journal of clinical endocrinology and metabolism 2013 5 (5) E996-1006
- No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.
Izzi Benedetta, et al. Journal of human genetics 2012 4 (4) 277-9
- Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.
Adegbite NS, et al. American journal of medical genetics. Part A 2008 7 (14) 1788-96
- Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
De Sanctis Luisa, et al. Pediatric research 2003 5 (5) 749-55
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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