A novel interstitial deletion of chromosome 2q21.1 ‐q23.3: Case report and literature review

ConclusionTo the best of our knowledge this is the first report of a de novo interstitial deletion at 2q21.1 –q23.3 in which haploinsufficiency of dose‐sensitive genes is shown to contribute to the patient's phenotype.

Source: Molecular Genetics & Genomic Medicine - January 27, 2020 Category: Genetics & Stem Cells Authors: Bader Almuzzaini, Nasser S. Alatwi, Saif Alsaif, Mohammed A. Al Balwi Tags: CLINICAL REPORT Source Type: research