Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

• Main Authors: Rita Maria Alves (Author), Paolo Uva (Author), Marielza F. Veiga (Author), Manuela Oppo (Author), Fabiana C. R. Zschaber (Author), Giampiero Porcu (Author), Henrique P. Porto (Author), Ivana Persico (Author), Stefano Onano (Author), Gianmauro Cuccuru (Author), Rossano Atzeni (Author), Lauro C. N. Vieira (Author), Marcos V. A. Pires (Author), Francesco Cucca (Author), Maria Betânia P. Toralles (Author), Andrea Angius (Author), Laura Crisponi (Author)
• Format: Book
• Published: BMC, 2019-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short stature, and developmental delays, sometimes associated with seizures and EEG abnormalities. So far, there have been over...