Autoimmune Polyglandular Syndrome Type 1
Last Posted: Aug 27, 2019
- Genetic screening in a large Chinese cohort of childhood onset hypoparathyroidism by next-generation sequencing combined with TBX1-MLPA.
Wang Yabing et al. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019 Aug
- Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism.
Lambert Anne-Sophie, et al. The Journal of clinical endocrinology and metabolism 2014 3 (3) E469-73
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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