Novel Mutations and Unreported Clinical Features in KBG Syndrome.
16q24.3 deletion
ANKRD11
Joint stiffness
KBG syndrome
Macrodontia
Journal
Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192
Informations de publication
Date de publication:
May 2019
May 2019
Historique:
accepted:
03
12
2018
entrez:
14
6
2019
pubmed:
14
6
2019
medline:
14
6
2019
Statut:
ppublish
Résumé
KBG syndrome is an autosomal dominant disorder caused by pathogenic variants within
Identifiants
pubmed: 31191201
doi: 10.1159/000496172
pii: msy-0010-0130
pmc: PMC6528090
doi:
Types de publication
Case Reports
Langues
eng
Pagination
130-138Références
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