First Case of a Dominant De Novo
Cranio-lenticulo-sutural dysplasia
SEC23A
genotype–phenotype correlation
literature overview
neurological manifestations
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
20 Jan 2024
20 Jan 2024
Historique:
received:
22
12
2023
revised:
15
01
2024
accepted:
19
01
2024
medline:
26
1
2024
pubmed:
26
1
2024
entrez:
26
1
2024
Statut:
epublish
Résumé
Cranio-lenticulo-sutural dysplasia (CLSD, OMIM #607812) is a rare genetic condition characterized by late-closing fontanels, skeletal defects, dysmorphisms, and congenital cataracts that are caused by bi-allelic or monoallelic variants in the
Identifiants
pubmed: 38275611
pii: genes15010130
doi: 10.3390/genes15010130
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM