Syndrome of Congenital Insulin Resistance Caused by a Novel
Female
Humans
Infant
Infant, Newborn
Male
Antigens, CD
/ genetics
Cardiomyopathy, Hypertrophic
/ complications
Diabetes Mellitus
Donohue Syndrome
/ diagnosis
Facies
Hyperglycemia
/ complications
Hypertrichosis
/ complications
Hypoglycemia
/ complications
Insulin
Insulin Resistance
/ genetics
Mutation
Receptor, Insulin
/ genetics
Insulin receptor
insulin resistance
leprechaunism
Journal
Journal of clinical research in pediatric endocrinology
ISSN: 1308-5735
Titre abrégé: J Clin Res Pediatr Endocrinol
Pays: Turkey
ID NLM: 101519456
Informations de publication
Date de publication:
23 08 2023
23 08 2023
Historique:
medline:
24
8
2023
entrez:
30
12
2021
pubmed:
31
12
2021
Statut:
ppublish
Résumé
Mutations in the
Identifiants
pubmed: 34965699
doi: 10.4274/jcrpe.galenos.2021.2021.0256
pmc: PMC10448552
doi:
Substances chimiques
Antigens, CD
0
INSR protein, human
EC 2.7.10.1
Insulin
0
Receptor, Insulin
EC 2.7.10.1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
312-317Références
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