Golder N. Wilson

You are already at the latest version Chromosome microarray analysis performed on 3,842 patients over 15 years (2009-2024), 92% with developmental disability/autism, yielded a total of 16,138 copy number variants (CNVs) averaging 4.2 per patient and qualified as benign (15,083 or 94%, most of size 11-99 kb), of uncertain significance (VUS, 216 or 1.3%, 0.5-0.75 Mb), or pathogenic (836 or 5.2%, 2-5 Mb).

This version is not peer-reviewed. You are already at the latest version The ZNF469 transcription factor and collagen-homologous matrix contributor, first related to recessively inherited brittle cornea syndrome, was found variant in 8 patients with Ehlers-Danlos syndrome and an additional 14 from the literature with related connective tissue findings.

1. Introduction Ehlers-Danlos Syndrome (EDS), traditionally defined by hypermobile joints and hyperelastic skin [1], is increasingly recognized as a multisystemic disease [2] associated with significant orthopedic [3] neuro-autonomic [4]-[7], and urogenital [8]-[10] complications. Recognition of the latter problems is particularly important given the greater hypermobility in women [2] and their 4 to 5-fold majority when EDS is systematically evaluated [11].