Anatomical and functional abnormalities on MRI in kabuki syndrome

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 syndrom...

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Bibliografski detalji
Izdano u:Neuroimage Clin
Glavni autori: Boisgontier, Jennifer, Tacchella, Jean Marc, Lemaître, Hervé, Lehman, Natacha, Saitovitch, Ana, Gatinois, Vincent, Boursier, Guilaine, Sanchez, Elodie, Rechtman, Elza, Fillon, Ludovic, Lyonnet, Stanislas, Le Quang Sang, Kim-Hanh, Baujat, Genevieve, Rio, Marlene, Boute, Odile, Faivre, Laurence, Schaefer, Elise, Sanlaville, Damien, Zilbovicius, Monica, Grévent, David, Geneviève, David, Boddaert, Nathalie
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2018
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6413468/
https://ncbi.nlm.nih.gov/pubmed/30497982
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nicl.2018.11.020
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