Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis. [electronic resource]
Producer: 20100929Description: 1781-8 p. digitalISSN:- 1552-4833
- Arthrogryposis -- complications
- Child, Preschool
- Chromosome Aberrations
- Chromosome Banding
- Chromosome Mapping
- Chromosomes, Human, Pair 6 -- genetics
- Comparative Genomic Hybridization
- Female
- Gene Duplication
- Hand Deformities, Congenital -- complications
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Infant, Newborn
- Karyotyping
- Polymerase Chain Reaction
- Pregnancy
- Radiography
- Utrophin -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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