Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion
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[1] Patricia W. Seo-Mayer,et al. Bartter Syndrome and Gitelman Syndrome. , 2019, Pediatric clinics of North America.
[2] D. Bolignano,et al. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. , 2017, Kidney international.
[3] J. Tohyama,et al. A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features , 2016, Congenital anomalies.
[4] K. Nakanishi,et al. Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics , 2015, Genetics in Medicine.
[5] Toshiyuki Yamamoto,et al. An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease , 2012, American journal of medical genetics. Part A.
[6] D. Magen,et al. Gitelman's syndrome: a pathophysiological and clinical update , 2012, Endocrine.
[7] D. Kahila,et al. Spectrum of mutations in Gitelman syndrome. , 2011, Journal of the American Society of Nephrology : JASN.
[8] R. Lifton,et al. Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter , 1996, Nature Genetics.