Clinical delineation of 18q11 ‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects

ConclusionThe 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.

Source: Molecular Genetics & Genomic Medicine - August 6, 2019 Category: Genetics & Stem Cells Authors: Kitiwan Rojnueangnit, Chariyawan Charalsawadi, Weerin Thammachote, Ariya Pradabmuksiri, Thipwimol Tim ‐Aroon, Antonio Novelli, Sara Loddo, Silvana Briuglia, Cutrupi M. Concetta, Duangrurdee Wattanasirichaigoon, Natini Jinawath Tags: ORIGINAL ARTICLE Source Type: research