Combined pituitary hormone deficiency in a patient with an
combined pituitary hormone deficiency
fibroblast growth factor receptor 1 (FGFR1)
genetic overlap
pituitary hypoplasia
Journal
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
ISSN: 0918-5739
Titre abrégé: Clin Pediatr Endocrinol
Pays: Japan
ID NLM: 9433330
Informations de publication
Date de publication:
2022
2022
Historique:
received:
26
02
2022
accepted:
01
04
2022
entrez:
5
8
2022
pubmed:
6
8
2022
medline:
6
8
2022
Statut:
ppublish
Résumé
Recent studies have indicated that heterozygous loss-of-function variants in fibroblast growth factor receptor 1 (
Identifiants
pubmed: 35928375
doi: 10.1297/cpe.2022-0020
pii: 2022-0020
pmc: PMC9297172
doi:
Types de publication
Case Reports
Langues
eng
Pagination
172-177Informations de copyright
2022©The Japanese Society for Pediatric Endocrinology.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest associated with this report.
Références
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Nat Rev Endocrinol. 2015 Sep;11(9):547-64
pubmed: 26194704
J Pediatr Endocrinol Metab. 2020 Aug 27;33(12):1613-1615
pubmed: 32853167
J Clin Endocrinol Metab. 2012 Apr;97(4):E694-9
pubmed: 22319038
J Pediatr Endocrinol Metab. 2017 Oct 26;30(10):1111-1118
pubmed: 28915117