Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? [electronic resource]
Producer: 20120605Description: 63-6 p. digitalISSN:- 1878-0849
- Abnormalities, Multiple -- genetics
- Alleles
- Autistic Disorder -- genetics
- Base Sequence
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 4 -- genetics
- Cognition Disorders -- genetics
- Comparative Genomic Hybridization
- Consanguinity
- Conserved Sequence
- Deafness -- genetics
- Homozygote
- Humans
- Male
- Phenotype
- Polydactyly -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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