Case Report: Two Newly Diagnosed Patients With KBG Syndrome-Two Different Molecular Changes

• Main Authors: Katarzyna Wojciechowska (Author), Joanna Nurzyńska-Flak (Author), Borys Styka (Author), Magdalena Kacprzak (Author), Monika Lejman (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Mutations or deletions of ANKRD11 gene are responsible for the symptoms of KBG syndrome. The KBG syndrome is a rare genetic disorder which is inherited in an autosomal dominant manner. Affected patients usually have characteristic facial features, macrodontia of the upper central incisors, hand abno...