Article
Natural history of KBG syndrome in a large European cohort.
Human molecular genetics - 16 Dec 2022
Loberti Lorenzo, Bruno Lucia Pia, Granata Stefania, Doddato Gabriella, Resciniti Sara, Fava Francesca, Carullo Michele, Rahikkala Elisa, Jouret Guillaume, Menke Leonie A, Lederer Damien, Vrielynck Pascal, Ryba Lukáš, Brunetti-Pierri Nicola, Lasa-Aranzasti Amaia, Cueto-González Anna Maria, Trujillano Laura, Valenzuela Irene, Tizzano Eduardo F, Spinelli Alessandro Mauro, Bruno Irene, Currò Aurora, Stanzial Franco, Benedicenti Francesco, Lopergolo Diego, Santorelli Filippo Maria, Aristidou Constantia, Tanteles George A, Maystadt Isabelle, Tkemaladze Tinatin, Reimand Tiia, Lokke Helen, Õunap Katrin, Haanpää Maria K, Holubová Andrea, Zoubková Veronika, Schwarz Martin, Žordania Riina, Muru Kai, Roht Laura, Tihveräinen Annika, Teek Rita, Thomson Ulvi, Atallah Isis, Superti-Furga Andrea, Buoni Sabrina, Canitano Roberto, Scandurra Valeria, Rossetti Annalisa, Grosso Salvatore, Battini Roberta, Baldassarri Margherita, Mencarelli Maria Antonietta, Rizzo Caterina Lo, Bruttini Mirella, Mari Francesca, Ariani Francesca, Renieri Alessandra, Pinto Anna Maria
Abstract excerpt
KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history of KBGS. In the context of a European collaborative study, we collected the largest cohort of KBGS patients (49). A combined array- based Comparative Genomic...
Read the complete abstract on PubMed