UNIGE document Scientific Article
previous document  unige:128423  next document
add to browser collection
Title

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome

Authors
Dorval, Guillaume
Gribouval, Olivier
Martinez-Barquero, Vanesa
Machuca, Eduardo
Tête, Marie-Josèphe
Baudouin, Véronique
Benoit, Stéphane
Chabchoub, Imen
show hidden authors show all authors [1 - 50]
Published in Pediatric Nephrology. 2018, vol. 33, no. 3, p. 473-483
Abstract Familial steroid-sensitive nephrotic syndrome (SSNS) is a rare condition. The disease pathophysiology remains elusive. However, bi-allelic mutations in the EMP2 gene were identified, and specific variations in HLA-DQA1 were linked to a high risk of developing the disease.
Keywords AdolescentAdultChildPreschoolFemaleGenetic HeterogeneityGenetic Predisposition to DiseaseGlucocorticoids/therapeutic useHLA-DQ alpha-Chains/geneticsHumansInfantMaleMembrane Glycoproteins/geneticsMiddle AgedMutationNephrotic Syndrome/drug therapy/geneticsSequence AnalysisDNA/methodsYoung Adult
Identifiers
PMID: 29058154
Full text
Article (Published version) (602 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Structures
Project FP7: EURENOMICS
Citation
(ISO format)
DORVAL, Guillaume et al. Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome. In: Pediatric Nephrology, 2018, vol. 33, n° 3, p. 473-483. doi: 10.1007/s00467-017-3819-9 https://archive-ouverte.unige.ch/unige:128423

127 hits

0 download

Update

Deposited on : 2020-01-08

Export document
Format :
Citation style :