Natural history of adults with KBG syndrome: A physician-reported experience.

doi:10.1016/j.gim.2024.101170

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Article

Natural history of adults with KBG syndrome: A physician-reported experience.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2024

Bayat Allan, 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

Abstract excerpt

PURPOSE: KBG syndrome (KBGS) is a rare neurodevelopmental syndrome caused by haploinsufficiency of ANKRD11. The childhood phenotype is extensively reported but limited for adults. Thus, we aimed to delineate the clinical features of KBGS. METHODS: We collected physician-reported data of adults with molecularly confirmed KBGS through an international collaboration. Moreover, we undertook a systematic literature...

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PMID: 38818797
DOI: 10.1016/j.gim.2024.101170

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