Anatomical and functional abnormalities on MRI in kabuki syndrome.
Arterial spin labeling
Brodmann area 6 and 9
Congenital disorder
Hippocampus
Kabuki syndrome
Voxel-based morphometry
Journal
NeuroImage. Clinical
ISSN: 2213-1582
Titre abrégé: Neuroimage Clin
Pays: Netherlands
ID NLM: 101597070
Informations de publication
Date de publication:
2019
2019
Historique:
received:
09
04
2018
revised:
16
11
2018
accepted:
18
11
2018
pubmed:
1
12
2018
medline:
18
12
2019
entrez:
1
12
2018
Statut:
ppublish
Résumé
Kabuki syndrome (KS) is a rare congenital disorder (1/32000 births) characterized by distinctive facial features, intellectual disability, short stature, and dermatoglyphic and skeletal abnormalities. In the last decade, mutations in KMT2D and KDM6A were identified as a major cause of kabuki syndrome. Although genetic abnormalities have been highlighted in KS, brain abnormalities have been little explored. Here, we have investigated brain abnormalities in 6 patients with KS (4 males; M
Identifiants
pubmed: 30497982
pii: S2213-1582(18)30358-9
doi: 10.1016/j.nicl.2018.11.020
pmc: PMC6413468
pii:
doi:
Substances chimiques
Spin Labels
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
101610Informations de copyright
Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.