Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an
cardiomyopathy
diabetes mellitus
focal segmental glomerulosclerosis
lamin A/C
lipodystrophy
progeroid syndrome
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 Oct 2020
01 Oct 2020
Historique:
received:
02
03
2020
accepted:
21
07
2020
entrez:
17
9
2020
pubmed:
18
9
2020
medline:
18
9
2020
Statut:
epublish
Résumé
Pathogenic variants in lamin A/C ( We report 6 new patients with a heterozygous Of the total 17 patients, all 14 adults with the heterozygous The heterozygous
Sections du résumé
BACKGROUND
BACKGROUND
Pathogenic variants in lamin A/C (
METHODS
METHODS
We report 6 new patients with a heterozygous
RESULTS
RESULTS
Of the total 17 patients, all 14 adults with the heterozygous
CONCLUSIONS
CONCLUSIONS
The heterozygous
Identifiants
pubmed: 32939435
doi: 10.1210/jendso/bvaa104
pii: bvaa104
pmc: PMC7485795
doi:
Types de publication
Journal Article
Langues
eng
Pagination
bvaa104Subventions
Organisme : NCATS NIH HHS
ID : UL1 TR000433
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001105
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA210916
Pays : United States
Organisme : NCRR NIH HHS
ID : UL1 RR024982
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002240
Pays : United States
Organisme : NHLBI NIH HHS
ID : P01 HL116263
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK105448
Pays : United States
Informations de copyright
© Endocrine Society 2020.
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