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genotype-phenotype correlation
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Menke, L.A.; Gardeitchik, T.; Hammond, P.; Heimdal, K.R.; Houge, G.; Hufnagel, S.B.; ... ; DDD Study
2018
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
Article / Letter to editor
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Menke, L.A.; Belzen, M.J. van; Alders, M.; Cristofoli, F.; Ehmke, N.; Fergelot, P.; ... ; DDD Study
2016
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype
Article / Letter to editor
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