Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome-Reference-Cited by-同舟云学术

Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome

Published:2019-07-16 Issue:2 Volume:66 Page:185-191
ISSN:1355-008X
Container-title:Endocrine
language:en
Short-container-title:Endocrine

Author:

Sobhani Maryam,Amin Tabatabaiefar Mohammad,Ghafouri-Fard Soudeh^ORCID,Rajab Asadollah,Mozafarpour Sarah,Nasrniya Samaneh,Kajbafzadeh Abdol-Mohammad,Noori-Daloii Mohammad Reza

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

http://link.springer.com/content/pdf/10.1007/s12020-019-02004-w.pdf

Reference36 articles.

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2. R.G. Swift, D.B. Sadler, M. Swift, Psychiatric findings in Wolfram syndrome homozygotes. Lancet 336(8716), 667–669 (1990)

3. S. Mozafarpour, A.M. Kajbafzadeh, A. Mojtahed, M. Mojtahed, H. Mahboubi, K. Shalileh, Management of bladder dysfunction in Wolfram syndrome with Mitrofanoff appendicovesicostomy: long-term follow-up. J. Pediatr. Surg. (2014). https://doi.org/10.1016/j.jpedsurg.2014.09.058

4. M. Sobhani, M.A. Tabatabaiefar, A. Rajab, A.M. Kajbafzadeh, M.R. Noori-Daloii, Significant expressivity of Wolfram syndrome: phenotypic assessment of two known and one novel mutation in the WFS1 gene in three Iranian families. Mol. Biol. Rep. 41(11), 7499–7505 (2014). https://doi.org/10.1007/s11033-014-3642-3

5. H. Inoue, Y. Tanizawa, J. Wasson, P. Behn, K. Kalidas, E. Bernal-Mizrachi, M. Mueckler, H. Marshall, H. Donis-Keller, P. Crock, D. Rogers, M. Mikuni, H. Kumashiro, K. Higashi, G. Sobue, Y. Oka, M.A. Permutt, A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat. Genet. 20(2), 143–148 (1998). https://doi.org/10.1038/2441

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1. Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report;Journal of Medical Case Reports;2023-09-27

2. Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants;Frontiers in Endocrinology;2023-03-07

3. Neuro-ophthalmological manifestations of Wolfram syndrome: Case series and review of the literature;Journal of the Neurological Sciences;2022-06