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Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome

Dorval, Guillaume
Gribouval, Olivier
Martinez-Barquero, Vanesa
Machuca, Eduardo
Tête, Marie-Josèphe
Baudouin, Véronique
Benoit, Stéphane
Chabchoub, Imen
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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
PMID: 29058154
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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

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Deposited on : 2020-01-08

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