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
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