Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Depienne, Christel

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. [electronic resource] - Human genetics 04 2017 - 463-479 p. digital

Publication Type: Journal Article

1432-1203

10.1007/s00439-017-1772-0 doi


Chromosome Deletion
Chromosomes, Human, Pair 1
Heterogeneous-Nuclear Ribonucleoproteins--genetics
Humans
Mutation
Neurodevelopmental Disorders--genetics
Phenotype
Repressor Proteins--genetics