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Toplam kayıt 13, listelenen: 11-13
Five novel ALMS1 gene mutations in six patients with Alstrom syndrome
(WALTER DE GRUYTER GMBH, 2018)
Background: Alstrom syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene. Methods: We describe the clinical and five novel mutational screening findings in six patients with Alstrom ...
A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome
(WILEY, 2018)
Neonatal diabetes mellitus (NDM) is a rare form of non-autoimmune diabetes usually diagnosed in the first 6months of life. Various genetic defects have been shown to cause NDM with diverse clinical presentations and variable ...
Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets
(WILEY, 2017)
ContextHypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3. ObjectiveTo investigate underlying genetic defects ...