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Human Molecular Genetics|July 13, 1999
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndromeD J Marsh, J B Kum, K L Lunetta, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 1, 2018
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathyF Tran Mau-Them, L Guibaud, L Duplomb, et al.Pageof 42