Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients.

@article{BlancoAguirre2015IdentificationOU,
  title={Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients.},
  author={Mar{\'i}a E Blanco-Aguirre and David Rivera-De la Parra and Hugo Tapia-Garcia and Johanna Gonzalez-Rodriguez and Daniela Welschen and Mar{\'i}a Estela Arroyo-Yllanes and Irineo Escudero and Jorge A Nu{\~n}ez-Hernandez and Patricia Medina-Bravo and Juan Carlos Zenteno},
  journal={Gene},
  year={2015},
  volume={566 1},
  pages={63-7}
}
OBJECTIVE Wolfram syndrome (WS) is a severe autosomal recessive pleiotropic disease primarily characterized by the association of juvenile-onset diabetes mellitus and optic atrophy. Earlier reports have shown that a proportion of WS cases may remain unrecognized due to misdiagnosis as type 1 diabetes mellitus (T1DM). The objectives of this work were to estimate the prevalence of patients fulfilling clinical criteria for WS in a cohort of subjects diagnosed as T1DM and to identify causal WFS1… CONTINUE READING
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