ESPE Abstracts

Aims/hypothesis: The Wolfram syndrome, also known as the DIDMOAD syndrome (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy, and Deafness), is mostly associated with recessive mutations in the WFS1 gene. However, dominant mutations in the WFS1 gene were described as causing less severe Wolfram-like syndrome, or isolated optic atrophy, or low-frequency sensorineural hearing loss.Method...