title: A new mutation in a patient with Wolfram syndrome.
authors.affiliation: Servicio de Neurología, Hospital Fundación Jiménez Díaz, Madrid, España. Electronic address: albacarcamof@gmail.com.
authors.forename: A
authors.initials: A
authors.lastname: Cárcamo Fonfría
authors.affiliation: Servicio de Oftalmología, Hospital Clínico San Carlos, Madrid, España.
authors.forename: E
authors.initials: E
authors.lastname: Santos-Bueso
authors.affiliation: Servicio de Oftalmología, Hospital Clínico San Carlos, Madrid, España.
authors.forename: J M
authors.initials: JM
authors.lastname: Benítez-Del-Castillo
authors.affiliation: Servicio de Neurología, Hospital Fundación Jiménez Díaz, Madrid, España.
authors.forename: J
authors.initials: J
authors.lastname: Porta-Etessam
mesh_terms: D000293:Adolescent; D003922:Diabetes Mellitus, Type 1; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009896:Optic Atrophy / Q000209:etiology; D020323:Tics / Q000209:etiology; D041623:Tomography, Optical Coherence; D014929:Wolfram Syndrome / Q000175:diagnosis*; D014985:Xerophthalmia / Q000209:etiology
chemical_list: D008565:Membrane Proteins; C114987:wolframin protein