Partial tetrasomy 14 associated with multiple malformations. [electronic resource]
Producer: 20160415Description: 1284-90 p. digitalISSN:- 1552-4833
- Abnormalities, Multiple -- genetics
- Child
- Chromosomes, Human, Pair 14 -- genetics
- Cleft Lip -- genetics
- Coloboma -- genetics
- Comparative Genomic Hybridization
- Craniosynostoses -- genetics
- Electron Transport Complex I -- deficiency
- Female
- Gastrointestinal Diseases -- genetics
- Humans
- In Situ Hybridization, Fluorescence
- Intellectual Disability -- genetics
- Karyotyping
- Microsatellite Repeats -- genetics
- Mitochondrial Diseases -- metabolism
- Models, Genetic
- Muscle, Skeletal -- metabolism
- Seizures -- genetics
- Sweden
- Tetrasomy -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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