Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion. [electronic resource]
Producer: 20140515Description: 2504-11 p. digitalISSN:- 1552-4833
- Chromosome Duplication
- Chromosomes, Human, Pair 17
- Chromosomes, Human, Pair 7
- Collagen Type I -- genetics
- Collagen Type I, alpha 1 Chain
- Comparative Genomic Hybridization
- Craniofacial Abnormalities -- diagnosis
- Dental Enamel Hypoplasia -- diagnosis
- Female
- Hair Diseases -- diagnosis
- Homeodomain Proteins -- genetics
- Humans
- In Situ Hybridization, Fluorescence
- Intellectual Disability -- diagnosis
- Male
- Middle Aged
- Mutagenesis, Insertional
- Osteogenesis Imperfecta -- diagnosis
- Pedigree
- Phenotype
- Sequence Deletion
- Syndrome
- Transcription Factors -- genetics
- Young Adult
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Publication Type: Case Reports; Journal Article
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