Barth Syndrome
What's New
Last Posted: Mar 04, 2023
- [Genetic analysis of a family with recurrent hydrops fetalis and dilated cardiomyopathy].
Wu Qinghua, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 0 (10) 1028-1030 - Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes.
Andrews Afiya et al. The Journal of clinical endocrinology and metabolism 2021 - A Bayesian Analysis to Determine the Prevalence of Barth Syndrome in the Pediatric Population.
Miller Paighton C et al. The Journal of pediatrics 2019 Nov - Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing.
Brión María, et al. American journal of clinical pathology 2016 4 - New targets for monitoring and therapy in Barth syndrome.
Thompson W Reid, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 2 - Barth syndrome
From NCATS Genetic and Rare Diseases Information Center
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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
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- Page last reviewed:Feb 1, 2023
- Page last updated:May 27, 2023
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