An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease.

This report also reviews the overlapping features in previously published 5q35 deletions and, importantly, provides deeper insight into distal 5q deletions.
PMID: 31654754 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - October 21, 2019 Category: Genetics & Stem Cells Authors: Arya P, Wilson TE, Parent JJ, Ware SM, Breman AM, Helm BM Tags: Eur J Med Genet Source Type: research