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?
Published in
European journal of medical genetics, vol. 55, no. 1, p. 63-66Publication date
2012Abstract
Keywords
- 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
UNIGE affiliation entities
UNIGE research groups
Citation (ISO format)
MAKRYTHANASIS, Periklis et al. 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? In: European journal of medical genetics, 2012, vol. 55, n° 1, p. 63–66. doi: 10.1016/j.ejmg.2011.11.001
Main files (1)
Article (Published version)
Identifiers
- PID : unige:34656
- DOI : 10.1016/j.ejmg.2011.11.001
- PMID : 22080113
