Original paper

Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants

Volume: 98, Issue: 2, Pages: 191 - 197
Published: Jul 14, 2020
Abstract
Structural eye disorders are increasingly recognised as having a genetic basis, although current genetic testing is limited in its success. De novo missense variants in WDR37 are a recently described cause of a multisystemic syndromic disorder featuring ocular coloboma. This study characterises the phenotypic spectrum of this disorder and reports 2 de novo heterozygous variants (p.Thr115Ile, p.Ser119Tyr) in three unrelated Caucasian individuals....
Paper Details
Title
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants
Published Date
Jul 14, 2020
Volume
98
Issue
2
Pages
191 - 197
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