Article
SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.
American journal of medical genetics. Part A - 1 May 2023
Edgerley Katharine, Bryson Lisa, Hanington Lucy, Irving Rachel, Joss Shelagh, Lampe Anne, Maystadt Isabelle, Osio Deborah, Richardson Ruth, Split Miranda, Sansbury Francis H, Scurr Ingrid, Stewart Helen, McNeil Alisdair, Low Karen
Abstract excerpt
To delineate further the clinical phenotype of Lamb-Shaffer Syndrome (LSS) 16 unpublished patients with heterozygous variation in SOX5 were identified either through the UK Decipher database or the study team was contacted by clinicians directly. Clinical phenotyping tables were completed for each patient by their responsible clinical geneticist. Photos and clinical features were compared to assess key phenotypes...
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