Article
ANKRD11 variants: KBG syndrome and beyond.
Clinical genetics - 1 Aug 2021
Parenti Ilaria, Mallozzi Mark B, Hüning Irina, Gervasini Cristina, Kuechler Alma, Agolini Emanuele, Albrecht Beate, Baquero-Montoya Carolina, Bohring Axel, Bramswig Nuria C, Busche Andreas, Dalski Andreas, Guo Yiran, Hanker Britta, Hellenbroich Yorck, Horn Denise, Innes A Micheil, Leoni Chiara, Li Yun R, Lynch Sally Ann, Mariani Milena, Medne Livija, Mikat Barbara, Milani Donatella, Onesimo Roberta, Ortiz-Gonzalez Xilma, Prott Eva Christina, Reutter Heiko, Rossier Eva, Selicorni Angelo, Wieacker Peter, Wilkens Alisha, Wieczorek Dagmar, Zackai Elaine H, Zampino Giuseppe, Zirn Birgit, Hakonarson Hakon, Deardorff Matthew A, Gillessen-Kaesbach Gabriele, Kaiser Frank J
Abstract excerpt
Mutations affecting the transcriptional regulator Ankyrin Repeat Domain 11 (ANKRD11) are mainly associated with the multisystem developmental disorder known as KBG syndrome, but have also been identified in individuals with Cornelia de Lange syndrome (CdLS) and other developmental disorders caused by variants affecting different chromatin regulators. The extensive functional overlap of these proteins results in...
Topics
- Abnormalities, Multiple
- Adolescent
- Bone Diseases, Developmental
- Child
- Child, Preschool
- Face
- Facies