Article
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
Clinical genetics - 1 Aug 2020
Hay Eleanor, Henderson Robert H, Mansour Sahar, Deshpande Charu, Jones Rachel, Nutan Savita, Mankad Kshitij, Young Rodrigo M, Moosajee Mariya, Research Consortium Genomics England, Arno Gavin
Abstract excerpt
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...
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