Expanding the Phenotype of
Autism
Expanding phenotype
Hypoplastic right caudate nucleus body
Neuroimaging
Novel pathogenic variant
TUBB2A
Tubulinopathy
Whole-exome sequencing
Whole-genome sequencing
Journal
Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
received:
02
05
2020
accepted:
08
10
2020
entrez:
29
3
2021
pubmed:
30
3
2021
medline:
30
3
2021
Statut:
ppublish
Résumé
Tubulinopathies are a group of conditions caused by variants in 6 tubulin genes that present with a spectrum of brain malformations. One of these conditions is
Identifiants
pubmed: 33776625
doi: 10.1159/000512160
pii: msy-0012-0033
pmc: PMC7983673
doi:
Types de publication
Case Reports
Langues
eng
Pagination
33-40Informations de copyright
Copyright © 2020 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
I.W.M. and M.J.G.S. are employees of GeneDx, Inc. A.M., D.P., and A.C. are employees of Illumina, Inc. Other authors have no conflicts of interest to declare.
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