20p11.23-p11.21 deletion in a child with hyperinsulinemic hypoglycemia and GH deficiency: A case report.
20p deletion
FOXA2
GH deficiency
hyperinsulinemic hypoglycemia
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:
2021
2021
Historique:
received:
19
11
2020
accepted:
20
03
2021
entrez:
21
7
2021
pubmed:
22
7
2021
medline:
22
7
2021
Statut:
ppublish
Résumé
Some neonatal hypoglycemias have genetic origins. For instance, mutation in forkhead box protein A2 (
Identifiants
pubmed: 34285455
doi: 10.1297/cpe.30.133
pii: 2020-0074
pmc: PMC8267556
doi:
Types de publication
Case Reports
Langues
eng
Pagination
133-137Informations de copyright
2021©The Japanese Society for Pediatric Endocrinology.
Déclaration de conflit d'intérêts
The authors declare no financial conflicts of interest.
Références
Hum Mutat. 2015 Jun;36(6):631-7
pubmed: 25765999
J Clin Endocrinol Metab. 2016 Mar;101(3):815-26
pubmed: 26908106
Pediatr Rev. 2017 Apr;38(4):147-157
pubmed: 28364046
Pediatr Int. 2014 Aug;56(4):467-76
pubmed: 24865345
Endocrinology. 2014 Oct;155(10):3781-92
pubmed: 25057789
Ann Neurol. 2005 Aug;58(2):211-23
pubmed: 16049933
Am J Med Genet A. 2011 Jan;155A(1):186-91
pubmed: 21204230
Am J Med Genet A. 2013 Jul;161A(7):1547-54
pubmed: 23657910
Clin Endocrinol (Oxf). 2020 Sep;93(3):305-311
pubmed: 32521075
Nat Neurosci. 2003 Sep;6(9):933-8
pubmed: 12897786
Case Rep Genet. 2017;2017:4364216
pubmed: 28255477
Hum Mutat. 2009 Mar;30(3):371-8
pubmed: 19058200
J Clin Endocrinol Metab. 2018 Mar 1;103(3):1042-1047
pubmed: 29329447
Clin Dysmorphol. 2005 Jul;14(3):137-40
pubmed: 15930903
Am J Med Genet A. 2019 Sep;179(9):1783-1790
pubmed: 31294511
Clin Pediatr Endocrinol. 2017;26(3):127-152
pubmed: 28804205
Hum Mol Genet. 2017 Nov 15;26(22):4315-4326
pubmed: 28973288