Anatomical and functional abnormalities on MRI in kabuki syndrome
| Affiliation auteurs | !!!! Error affiliation !!!! |
| Titre | Anatomical and functional abnormalities on MRI in kabuki syndrome |
| Type de publication | Journal Article |
| Year of Publication | 2019 |
| Auteurs | Boisgontier J, Tacchella JMarc, Lemaitre H, Lehman N, Saitovitch A, Gatinois V, Boursier G, Sanchez E, Rechtman E, Fillon L, Lyonnet S, Sang K-HLe Quang, Baujat G, Rio M, Boute O, Faivre L, Schaefer E, Sanlaville D, Zilbovicius M, Grevent D, Genevieve D, Boddaert N |
| Journal | NEUROIMAGE-CLINICAL |
| Volume | 21 |
| Pagination | 101610 |
| Type of Article | Article |
| ISSN | 2213-1582 |
| Mots-clés | Arterial spin labeling, Brodmann area 6 and 9, Congenital disorder, hippocampus, Kabuki syndrome, Voxel-based morphometry |
| 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-age = 10.96 years |
| DOI | 10.1016/j.nicl.2018.11.020 |