Last Posted: Oct 27, 2020
- Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Dyment David A et al. American journal of medical genetics. Part A 2020 Oct
- Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research.
Innes A Micheil et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Dec 178(4) 387-397
- Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
Walne Amanda J, et al. Haematologica 2016 9
- Dubowitz 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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