Article
WFS1 Gene-associated Diabetes Phenotypes and Identification of a Founder Mutation in Southern India.
The Journal of clinical endocrinology and metabolism - 19 Apr 2022
Chapla Aaron, Johnson Jabasteen, Korula Sophy, Mohan Nisha, Ahmed Anish, Varghese Deny, Rangasamy Parthiban, Ravichandran Lavanya, Jebasingh Felix, Kumar Agrawal Krishna, Somasundaram Noel, Hesarghatta Shyamasunder Asha, Mathai Sarah, Simon Anna, Jha Sujeet, Chowdry Subhankar, Venkatesan Radha, Raghupathy Palany, Thomas Nihal
Abstract excerpt
CONTEXT: Wolfram syndrome (WFS) is a rare autosomal recessive disorder characterized by juvenile-onset diabetes, diabetes insipidus, optic atrophy, deafness, and progressive neurodegeneration. However, due to the progressive nature of the disease and a lack of complete clinical manifestations, a confirmed diagnosis of WFS at the time of onset of diabetes is a challenge. OBJECTIVE: With WFS1 rare heterozygous...
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