Article
Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2021
Jiménez de la Peña Mar, Fernández-Mayoralas Daniel Martín, López-Martín Sara, Albert Jacobo, Calleja-Pérez Beatriz, Fernández-Perrone Ana Laura, Jiménez de Domingo Ana, Tirado Pilar, Álvarez Sara, Fernández-Jaén Alberto
Abstract excerpt
KBG syndrome is characterized by dental, craniofacial and skeletal anomalies, short stature and global developmental delay or intellectual disability. It is caused by microdeletions or truncating mutations of ANKRD11. We report four unrelated probands with this syndrome due to de novo ANKRD11 aberrations that may contribute to a better understanding of the genetics and pathophysiology of this autosomal dominant...
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