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To delineate further the clinical phenotype of Lamb–Shaffer Syndrome (LSS) 16 unpublished patients with heterozygous variation in SOX5 were identified either through the UK Decipher database or the study team was contacted by clinicians directly.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

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

Autor: 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

Publikováno v: American Journal of Medical Genetics. Part A; May2023, Vol. 191 Issue 5, p1447-1458, 12p

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