Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case.

Palumbo, Pietro

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