FGF9
SYNS3
cleft palate
craniosynostoses
fusion of interphalangeal joints
human genetics
multiple synostoses syndrome type 3
whole exome sequencing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
15 03 2023
15 03 2023
Historique:
received:
03
02
2023
revised:
08
03
2023
accepted:
13
03
2023
medline:
30
3
2023
entrez:
29
3
2023
pubmed:
30
3
2023
Statut:
epublish
Résumé
Multiple synostoses syndrome (OMIM: #186500, #610017, #612961, #617898) is a genetically heterogeneous group of autosomal dominant diseases characterized by abnormal bone unions. The joint fusions frequently involve the hands, feet, elbows or vertebrae. Pathogenic variants in
Identifiants
pubmed: 36980996
pii: genes14030724
doi: 10.3390/genes14030724
pmc: PMC10048304
pii:
doi:
Substances chimiques
FGF9 protein, human
0
Fibroblast Growth Factor 9
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
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