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Home > Our Research Activities > List Of Publications > Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

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