A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis.
KAT6A syndrome
pancraniosynostosis
whole exome sequencing
Journal
Journal of pediatric genetics
ISSN: 2146-4596
Titre abrégé: J Pediatr Genet
Pays: Germany
ID NLM: 101589859
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
received:
31
01
2020
accepted:
23
03
2020
entrez:
8
2
2021
pubmed:
9
2
2021
medline:
9
2
2021
Statut:
ppublish
Résumé
De novo heterozygous mutations in the
Identifiants
pubmed: 33552646
doi: 10.1055/s-0040-1710330
pii: 2000013
pmc: PMC7853917
doi:
Types de publication
Case Reports
Langues
eng
Pagination
81-84Informations de copyright
Thieme. All rights reserved.
Déclaration de conflit d'intérêts
Conflict of Interest None declared.
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