Novel compound heterozygous variants (c.971delA/c.542C > T) in
amino acid transporter
microcephaly
seizure
spastic tetraplegia
spasticity
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2023
2023
Historique:
received:
10
03
2023
accepted:
26
06
2023
medline:
28
7
2023
pubmed:
28
7
2023
entrez:
28
7
2023
Statut:
epublish
Résumé
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) are linked to
Identifiants
pubmed: 37502193
doi: 10.3389/fped.2023.1183574
pmc: PMC10369183
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1183574Informations de copyright
© 2023 Mohamed, Ghattas, Almansoori, Tabouni, Baydoun, Kizhakkedath, John, Alblooshi, Shaukat and Al-Jasmi.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Nat Protoc. 2016 Jan;11(1):1-9
pubmed: 26633127
J Neurosci. 2003 Jan 15;23(2):550-60
pubmed: 12533615
Genomics. 1994 Nov 1;24(1):20-6
pubmed: 7896285
J Mol Neurosci. 2022 Jun;72(6):1322-1333
pubmed: 35316504
PLoS One. 2016 Jun 07;11(6):e0156551
pubmed: 27272177
Child Neurol Open. 2019 Oct 08;6:2329048X19880647
pubmed: 31763347
BMC Bioinformatics. 2010 Nov 08;11:548
pubmed: 21059217
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
PLoS One. 2012;7(10):e46688
pubmed: 23056405
Comput Struct Biotechnol J. 2021 Sep 17;19:5246-5254
pubmed: 34630942
Nat Methods. 2010 Apr;7(4):248-9
pubmed: 20354512
Hum Mutat. 2003 Jun;21(6):577-81
pubmed: 12754702
J Mol Graph Model. 2017 Jun;74:54-60
pubmed: 28351017
Proc Natl Acad Sci U S A. 2018 Sep 18;115(38):9628-9633
pubmed: 30185558
J Hum Genet. 2016 Aug;61(8):761-4
pubmed: 27193218
Nature. 2020 May;581(7809):434-443
pubmed: 32461654
Nucleic Acids Res. 2017 Jan 4;45(D1):D840-D845
pubmed: 27899611
Nucleic Acids Res. 2002 Jan 1;30(1):52-5
pubmed: 11752252
SLAS Discov. 2021 Oct;26(9):1148-1163
pubmed: 34269129
J Med Genet. 2015 Aug;52(8):541-7
pubmed: 26041762
J Chem Theory Comput. 2007 Nov;3(6):2312-34
pubmed: 26636222
Nat Methods. 2014 Apr;11(4):361-2
pubmed: 24681721
Nature. 2015 Oct 1;526(7571):68-74
pubmed: 26432245