An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p. [electronic resource]
Producer: 20120720Description: 400-5 p. digitalISSN:- 1552-4833
- Body Dysmorphic Disorders -- diagnosis
- Child
- Chromosome Breakpoints
- Chromosome Deletion
- Chromosome Disorders -- diagnosis
- Chromosomes, Human, Pair 17 -- genetics
- Comparative Genomic Hybridization
- Haploinsufficiency -- genetics
- Hearing Loss -- diagnosis
- Humans
- Intellectual Disability -- diagnosis
- Mediator Complex -- genetics
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Publication Type: Case Reports; Journal Article
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