Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. [electronic resource]
Producer: 20130618Description: 537-52 p. digitalISSN:- 1432-1203
- Abnormalities, Multiple -- genetics
- Animals
- Branchial Region -- enzymology
- Cell Line
- Chromosomes, Human, Pair 5 -- genetics
- Cleft Palate -- genetics
- Comparative Genomic Hybridization
- DNA Copy Number Variations
- Female
- Gene Knockdown Techniques
- Haploinsufficiency -- genetics
- Histone Demethylases -- genetics
- Humans
- Intellectual Disability -- genetics
- Karyotyping
- Microcephaly -- genetics
- Muscle Hypotonia -- genetics
- Nuclear Proteins -- genetics
- Phenotype
- Psychomotor Disorders -- genetics
- Seizures -- genetics
- Translocation, Genetic
- X Chromosome -- genetics
- Young Adult
- Zebrafish -- embryology
- Zebrafish Proteins -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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