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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 Jinawath
Published 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.
Keyphrases
  • intellectual disability
  • long term care
  • autism spectrum disorder
  • heart failure