Natural history of adults with KBG syndrome: A physician-reported experience
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Published:2024-08
Issue:8
Volume:26
Page:101170
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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:
Bayat AllanORCID, Grimes Hannah, de Boer Elke, Herlin Morten Krogh, Dahl Rebekka Staal, Lund Ida Charlotte Bay, Bayat Michael, Bolund Anneli Clea Skjelmose, Gjerulfsen Cathrine Elisabeth, Gregersen Pernille Axél, Zilmer Monica, Juhl Stefan, Cebula Katarzyna, Rahikkala Elisa, Maystadt Isabelle, Peron Angela, Vignoli Aglaia, Alfano Rosa Maria, Stanzial Franco, Benedicenti Francesco, Currò Aurora, Luk Ho-Ming, Jouret Guillaume, Zurita Ella, Heuft Lara, Schnabel Franziska, Busche Andreas, Veenstra-Knol Hermine Elisabeth, Tkemaladze Tinatin, Vrielynck Pascal, Lederer Damien, Platzer Konrad, Ockeloen Charlotte Wilhelmina, Goel Himanshu, Low Karen Jaqueline
Reference44 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. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia;Sirmaci;Am J Hum Genet,2011 3. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature;Peluso;J Med Genet,2023 4. Clinical and genetic aspects of KBG syndrome;Low;Am J Med Genet A,2016 5. ANKRD11 variants: KBG syndrome and beyond;Parenti;Clin Genet,2021
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