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A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.
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- Molecular Syndromology, 2020, v. 11, n. 1, p. 30, doi. 10.1159/000505797
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Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 1967, doi. 10.1093/brain/awae057
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- Article
Digenic Inheritance in Rare Disorders and Mitochondrial Disease—Crossing the Frontier to a More Comprehensive Understanding of Etiology.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 9, p. 4602, doi. 10.3390/ijms25094602
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- Article