Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
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Published:2022-10
Issue:10
Volume:24
Page:2051-2064
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
de Boer ElkeORCID, Ockeloen Charlotte W., Kampen Rosalie A., Hampstead Juliet E., Dingemans Alexander J.M., Rots Dmitrijs, Lütje Lukas, Ashraf Tazeen, Baker Rachel, Barat-Houari Mouna, Angle Brad, Chatron Nicolas, Denommé-Pichon Anne-Sophie, Devinsky Orrin, Dubourg Christèle, Elmslie Frances, Elloumi Houda Zghal, Faivre Laurence, Fitzgerald-Butt Sarah, Geneviève David, Goos Jacqueline A.C., Helm Benjamin M., Kini Usha, Lasa-Aranzasti Amaia, Lesca Gaetan, Lynch Sally A., Mathijssen Irene M.J., McGowan Ruth, Monaghan Kristin G., Odent Sylvie, Pfundt Rolph, Putoux Audrey, van Reeuwijk Jeroen, Santen Gijs W.E., Sasaki Erina, Sorlin Arthur, van der Spek Peter J., Stegmann Alexander P.A., Swagemakers Sigrid M.A., Valenzuela Irene, Viora-Dupont Eléonore, Vitobello Antonio, Ware Stephanie M., Wéber Mathys, Gilissen Christian, Low Karen J., Fisher Simon E., Vissers Lisenka E.L.M., Wong Maggie M.K., Kleefstra Tjitske
Subject
Genetics (clinical)
Reference39 articles.
1. The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies;Herrmann;Birth Defects Orig Artic Ser,1975 2. Further delineation of the KBG syndrome caused by ANKRD11 aberrations;Ockeloen;Eur J Hum Genet,2015 3. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11;Goldenberg;Am J Med Genet A,2016 4. Clinical and genetic aspects of KBG syndrome;Low;Am J Med Genet A,2016 5. KBG syndrome: common and uncommon clinical features based on 31 new patients;Gnazzo;Am J Med Genet A,2020
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