Publication: Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Date
Date
Date
Citations
Peluso, F., Caraffi, S. G., Contrò, G., Valeri, L., Napoli, M., Carboni, G., Seth, A., Zuntini, R., Coccia, E., Astrea, G., Bisgaard, A.-M., Ivanovski, I., Maitz, S., Brischoux-Boucher, E., Carter, M. T., Dentici, M. L., Devriendt, K., Bellini, M., Digilio, M. C., … et al. (2023). Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature. Journal of Medical Genetics, 60, 1224–1234. https://doi.org/10.1136/jmg-2023-109141
Abstract
Abstract
Abstract
Background: KBG syndrome is caused by haploinsufficiency of ANKRD11and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures. The central nervous system (CNS) and skeletal features remain poorly defined.
Methods: CNS and/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an international network. We evaluated the original imaging and compared our results with data
Metrics
Downloads
Views
Additional indexing
Creators (Authors)
Volume
Volume
Volume
Number
Number
Number
Page range/Item number
Page range/Item number
Page range/Item number
Page end
Page end
Page end
Item Type
Item Type
Item Type
In collections
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Keywords
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
OA Status
OA Status
OA Status
Free Access at
Free Access at
Free Access at
Publisher DOI
Metrics
Downloads
Views
Citations
Peluso, F., Caraffi, S. G., Contrò, G., Valeri, L., Napoli, M., Carboni, G., Seth, A., Zuntini, R., Coccia, E., Astrea, G., Bisgaard, A.-M., Ivanovski, I., Maitz, S., Brischoux-Boucher, E., Carter, M. T., Dentici, M. L., Devriendt, K., Bellini, M., Digilio, M. C., … et al. (2023). Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature. Journal of Medical Genetics, 60, 1224–1234. https://doi.org/10.1136/jmg-2023-109141
