SOX5:Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum

Autor: Katharine Edgerley, Lisa Bryson, Lucy Hanington, Rachel Irving, Shelagh Joss, Anne Lampe, Isabelle Maystadt, Deborah Osio, Ruth Richardson, Miranda Split, Francis H. Sansbury, Ingrid Scurr, Helen Stewart, Alisdair McNeil, Karen Low

Publikováno v: Edgerley, K, Bryson, L, Hanington, L, Irving, R, Joss, S, Lampe, A, Maystadt, I, Osio, D, Richardson, R, Splitt, M, Sansbury, F H, Scurr, I, Stewart, H, McNeil, A & Low, K J 2023, ' SOX5 : Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum ', American Journal of Medical Genetics, Part A, vol. 191, no. 5, pp. 1447-1458 . https://doi.org/10.1002/ajmg.a.63124

To delineate further the clinical phenotype of Lamb–Shaffer Syndrome (LSS) 16 unpublished patients with heterozygous variation in SOX5 were identified either through the UK Decipher database or the study team was contacted by clinicians directly. C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4da6de326869a93bcfd7db6c335f8e45
https://hdl.handle.net/1983/6500363b-00e6-4b51-a3f7-a2df3113c9f4

Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients

Autor: Asma Hamad, Charlotte A. Sherlaw-Sturrock, Kate Glover, Rachel Salmon, Karen Low, Ramya Nair, Francis H. Sansbury, LettieE. Rawlins, Jenny Carmichael, Rachael Horton, Sarah Wedderburn, Katherine Edgerley, Rachel Irving, Mary Callaghan, Catherine Mercer, Ruth McGowan, Leema Robert, Hannah Titheradge, Swati Naik

Publikováno v: European Journal of Medical Genetics. 66:104714

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::07c6cf19c0766649381d4932d079577b
https://doi.org/10.1016/j.ejmg.2023.104714

List of Contributors

Autor: Sura Alwan, Angus John Clarke, Kenneth H. Astrin, Marina Bartsakoulia, Deepika D’Cunha Burkardt, Constantina Chalikiopoulou, Joshua L. Deignan, Robert J. Desnick, Shweta U. Dhar, Debra Lochner Doyle, Malcolm A. Ferguson-Smith, Jan M. Friedman, John M. Graham Jr., Daniel Graziano, Wayne W. Grody, Rachel Irving, Kenneth L. Jones, Marilyn C. Jones, Theodora Katsila, Muin J. Khoury, Matthew J. McGinniss, Molly A. McGinniss, John B. Moeschler, Angeliki Panagiotara, George P. Patrinos, Maren T. Scheuner, Edward H. Schuchman, Amita Sehgal, Efthymios Skoufas, Nancy B. Spinner, Massimo Trucco, Evangelia-Eirini Tsermpini, Marc S. Williams, Shirley L. Zhang

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dbb62a0f26475f610ec661df0838a173
https://doi.org/10.1016/b978-0-12-812536-6.01002-6