A Recurrent Mutation in Growth Hormone Receptor (
delayed puberty
facial dysmorphism
growth hormone insensitivity
short stature
truncal obesity
widely-spaced breasts
Journal
The Yale journal of biology and medicine
ISSN: 1551-4056
Titre abrégé: Yale J Biol Med
Pays: United States
ID NLM: 0417414
Informations de publication
Date de publication:
09 2023
09 2023
Historique:
medline:
3
10
2023
pubmed:
2
10
2023
entrez:
2
10
2023
Statut:
epublish
Résumé
Laron syndrome (LS) is a rare autosomal recessively segregating disorder of severe short stature. The condition is characterized by short limbs, delayed puberty, hypoglycemia in infancy, and obesity. Mutations in growth hormone receptor (
Identifiants
pubmed: 37780997
doi: 10.59249/TCAA2040
pii: yjbm963313
pmc: PMC10524814
doi:
Substances chimiques
Receptors, Somatotropin
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
313-325Informations de copyright
Copyright ©2023, Yale Journal of Biology and Medicine.
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