Makrythanasis, Periklis

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] - European journal of medical genetics Jan 2012 - 63-6 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1878-0849

10.1016/j.ejmg.2011.11.001 doi


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