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