KBG Syndrome: Prospective Videoconferencing and Use of AI-driven Facial Phenotyping in 25 New Patients
Lily Guo, Jiyeon Park, Edward Yi, Elaine J. Marchi, Tzung‐Chien Hsieh, Yana Kibalnyk, Yolanda Moreno-Sáez, Saskia Biskup, Oliver Puk, Carmela Beger, Anastassia Voronova, Peter Michael Krawitz, Gholson J. Lyon
This study reports on 25 new KBG syndrome patients, identifies common clinical features, and provides recommendations for diagnosis and treatment.
medRxiv · Nov 18, 2021 · PreprintGenetic & Genomic Medicine