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[Wolfram Syndrome: Report of 2 hereditary cases]. 2021

T Pasquesoone, and I Chergui, and H Satour, and N Kaaloul
CHU Amiens Picardie, service d'ophtalmologie, 1, rond-point du Professeur Christian Cabrol, 80054 Amiens cedex 1. Electronic address: tpasquesoone@gmail.com.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014929 Wolfram Syndrome A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein. DIDMOAD,DIDMOAD Syndrome,DIDMOADUD,Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness,Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness,Wolfram Syndrome 1,Syndrome, Wolfram

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