Novel
Kabuki syndrome
diazoxide
hyperinsulinism
hypoglycemia
pulmonary hypertension
Journal
Journal of the Endocrine Society
ISSN: 2472-1972
Titre abrégé: J Endocr Soc
Pays: United States
ID NLM: 101697997
Informations de publication
Date de publication:
01 Apr 2022
01 Apr 2022
Historique:
received:
27
07
2021
entrez:
3
3
2022
pubmed:
4
3
2022
medline:
4
3
2022
Statut:
epublish
Résumé
Kabuki syndrome (KS) is a multisystem disorder estimated to occur in 1:32 000 newborns. Pathogenic mutations cause the majority but not all cases of KS in either
Identifiants
pubmed: 35237736
doi: 10.1210/jendso/bvac015
pii: bvac015
pmc: PMC8884118
doi:
Types de publication
Case Reports
Langues
eng
Pagination
bvac015Subventions
Organisme : NIDDK NIH HHS
ID : P30 DK020595
Pays : United States
Organisme : NIDDK NIH HHS
ID : T32 DK007011
Pays : United States
Informations de copyright
© The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society.
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