Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case. [electronic resource]
- Gene Apr 2014
- 373-8 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1879-0038
10.1016/j.gene.2014.01.050 doi
Abnormalities, Multiple--genetics Acetyl-CoA Carboxylase--genetics Autistic Disorder--genetics Child Chromosome Deletion Chromosomes, Human, Pair 17--genetics Female Forkhead Transcription Factors--genetics Haploinsufficiency--genetics Haplotypes Hepatocyte Nuclear Factor 1-beta--genetics Humans Intellectual Disability--genetics LIM-Homeodomain Proteins--genetics Language Development Disorders--genetics Male Phenotype Polymorphism, Single Nucleotide Transcription Factors--genetics