Kidney International Reports · 2017 · 85 citations · 9 references
This study revealed that phenotypes in female XLAS patients may be severe, but genotype does not help to predict the disease severity. Clinicians must therefore pay careful attention to the clinical course and appropriate treatment in females with XLAS.
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Jean Philippe Jaïs, Bertrand Knebelmann, Iannis Giatras et al. · Journal of the American Society of Nephrology · 2000 · 574 citations
Jean Philippe Jaïs, Bertrand Knebelmann, Iannis Giatras et al. · Journal of the American Society of Nephrology · 2003 · 469 citations · Full text
Evidence of digenic inheritance in Alport syndrome
Maria Antonietta Mencarelli, Laurence Heidet, Helen Storey et al. · Journal of Medical Genetics · 2015 · 159 citations · Full text