Utami, Kagistia Hana

Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency. [electronic resource] - Human mutation Nov 2014 - 1311-20 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review

1098-1004

10.1002/humu.22636 doi


Animals
Cell Differentiation--genetics
Cell Movement--genetics
Child, Preschool
Chromosome Breakpoints
Disease Models, Animal
Embryonic Stem Cells--metabolism
Female
Gene Expression
Gene Expression Profiling
Gene Expression Regulation, Developmental
Gene Knockdown Techniques
Genetic Association Studies
Haploinsufficiency
Humans
Intellectual Disability--diagnosis
Mediator Complex--genetics
Neural Crest--embryology
Neurons--cytology
Phenotype
RNA, Messenger--genetics
Sequence Analysis, DNA
Transcriptome
Translocation, Genetic
Zebrafish