Journal
HGG advances
ISSN: 2666-2477
Titre abrégé: HGG Adv
Pays: United States
ID NLM: 101772885
Informations de publication
Date de publication:
14 Oct 2021
14 Oct 2021
Historique:
entrez:
24
12
2021
pubmed:
25
12
2021
medline:
25
12
2021
Statut:
ppublish
Résumé
Xia-Gibbs syndrome (XGS; MIM: 615829) is a phenotypically heterogeneous neurodevelopmental disorder (NDD) caused by newly arising mutations in the AT-Hook DNA-Binding Motif-Containing 1 (
Identifiants
pubmed: 34950897
doi: 10.1016/j.xhgg.2021.100049
pmc: PMC8694554
mid: NIHMS1762851
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : NHGRI NIH HHS
ID : K08 HG008986
Pays : United States
Organisme : NINDS NIH HHS
ID : R35 NS105078
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG011758
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG008898
Pays : United States
Déclaration de conflit d'intérêts
Declaration of interests J.R.L. has stock ownership in 23andMe, is a paid consultant for the Regeneron Genetics Center, and is a coinventor on multiple US and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, and bacterial genomic fingerprinting. The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from the chromosomal microarray analysis (CMA) and clinical exome sequencing (cES) offered in the Baylor Genetics (BG) Laboratory. J.R.L. serves on the Scientific Advisory Board of BG. J.F.’s spouse is Founder and Principal of Friedman Bioventure, which holds a variety of publicly traded and private biotechnology interests. K.M. is an employee of GeneDx, Inc. All other authors declare no competing interests.
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