Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

Cohen, J S

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. [electronic resource] - Clinical genetics May 2017 - 697-707 p. digital

Publication Type: Case Reports; Journal Article

1399-0004

10.1111/cge.12861 doi


Abnormalities, Multiple--genetics
Adult
Child
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 1--genetics
Exome
Female
Haploinsufficiency
Humans
Intellectual Disability--genetics
Magnetic Resonance Imaging
Male
Microcephaly--genetics
Mutation
Mutation, Missense
Pregnancy
Repressor Proteins--genetics