Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case. [electronic resource]
Producer: 20140414Description: 373-8 p. digitalISSN:- 1879-0038
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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