MYRF: A New Regulator of Cardiac and Early Gonadal Development-Insights from Single Cell RNA Sequencing Analysis.
CITED2
MYRF
cardiac and urogenital syndrome
disorders of sex development
gonadal development
scimitar syndrome
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
18 Aug 2022
18 Aug 2022
Historique:
received:
30
06
2022
revised:
16
08
2022
accepted:
17
08
2022
entrez:
26
8
2022
pubmed:
27
8
2022
medline:
27
8
2022
Statut:
epublish
Résumé
De novo variants in the myelin regulatory factor (MYRF), a transcription factor involved in the differentiation of oligodendrocytes, have been linked recently to the cardiac and urogenital syndrome, while familiar variants are associated with nanophthalmos. Here, we report for the first time on a patient with a de novo stop-gain variant in
Identifiants
pubmed: 36013096
pii: jcm11164858
doi: 10.3390/jcm11164858
pmc: PMC9409872
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Federal Ministry of Education and Research
ID : 01DQ17004
Organisme : Deutsche Forschungsgemeinschaft
ID : EXC 22167- 390884018
Organisme : Federal Ministry of Health
ID : 2519FSB503
Organisme : São Paulo Research Foundation
ID : 2020/13421-8
Organisme : Alexander von Humboldt Foundation
ID : HFS
Organisme : German Academic Exchange Service
ID : 57460069
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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