A Novel Intronic
Kabuki syndrome
RNA splicing
coloboma
rare disease
sensorineural hearing loss
Journal
The application of clinical genetics
ISSN: 1178-704X
Titre abrégé: Appl Clin Genet
Pays: New Zealand
ID NLM: 101579789
Informations de publication
Date de publication:
2021
2021
Historique:
received:
27
04
2021
accepted:
22
08
2021
entrez:
22
10
2021
pubmed:
23
10
2021
medline:
23
10
2021
Statut:
epublish
Résumé
Kabuki syndrome (KS) is an autosomal dominant genetic disorder in which most cases are caused by de novo mutations. KS type 1 is caused by mutations in
Identifiants
pubmed: 34675602
doi: 10.2147/TACG.S317723
pii: 317723
pmc: PMC8502069
doi:
Types de publication
Case Reports
Langues
eng
Pagination
409-416Informations de copyright
© 2021 Aristizábal et al.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.
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