Apparent Mineralocorticoid Excess
Last Posted: Feb 20, 2019
- Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.
Najafi Maryam et al. Orphanet journal of rare diseases 2019 Feb 14(1) 41
- 11?-Hydroxysteroid dehydrogenase type 2 in hypertension: comparison of phenotype and genotype analysis.
Kosicka K, et al. Journal of human hypertension 2013 8 (8) 510-5
- Genetic variations of HSD11B2 in hypertensive patients and in the general population, six rare missense/frameshift mutations.
Kamide Kei, et al. Hypertension research : official journal of the Japanese Society of Hypertension 2006 4 (4) 243-52
- Association between a variant in the 11 beta-hydroxysteroid dehydrogenase type 2 gene and primary hypertension.
Melander O, et al. Journal of human hypertension 2000 12 (12) 819-23
- Association studies between the HSD11B2 gene (encoding human 11beta-hydroxysteroid dehydrogenase type 2), type 1 diabetes mellitus and diabetic nephropathy.
Lavery Gareth G, et al. European journal of endocrinology / European Federation of Endocrine Societies 2002 4 (4) 553-8
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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