Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.
Kitiwan RojnueangnitChariyawan CharalsawadiWeerin ThammachoteAriya PradabmuksiriThipwimol Tim-AroonAntonio NovelliSara LoddoSilvana BriugliaCutrupi M ConcettaDuangrurdee WattanasirichaigoonNatini JinawathPublished in: Molecular genetics & genomic medicine (2019)
The detailed clinical delineation of the proximal 18q deletions identified in this study should contribute to better understanding of the genotype-phenotype correlations and better long-term care of patients with this rare syndrome.