Last Posted: Feb 19, 2023
- Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience.
Liang Bin, et al. BMC medical genomics 2022 0 (1) 268
- [Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome].
Duan Fuhua, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 0 (1) 71-73
- De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients.
Mak Christopher C Y, et al. NPJ genomic medicine 2016 0 16033
- Miller-Dieker 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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