Last Posted: Jun 24, 2021
- 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
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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