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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.
Neuhofer CM, Funke R, Wilken B, Knaus A, Altmüller J, Nürnberg P, Li Y, Wollnik B, Burfeind P, Pauli S. Neuhofer CM, et al. Among authors: wilken b. Mol Syndromol. 2020 Feb;11(1):30-37. doi: 10.1159/000505797. Epub 2020 Feb 5. Mol Syndromol. 2020. PMID: 32256299 Free PMC article.
131 results