Abstract 114: WFS1 gene associated diabetes phenotypes and identification of a novel founder mutation in Southern India

Background: Wolfram Syndrome (WFS) is a rare, autosomal recessive, progressive disorder characterized by childhood-onset diabetes mellitus (DM), diabetes insipidus, optic atrophy, and sensorineural hearing loss (DIDMOAD). The confirmed early diagnosis of WFS is challenging due to the progressive nat...

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Detalles Bibliográficos
Autores principales: Chapla, Aaron, Johnson, Jabasteen, Korula, Sophy, Nisha, M, Ahmed, Anish, Varghese, Deny, Parthiban, R, Ravichandran, Lavanya, Jebasingh, Felix, Asha, H S, Mathai, Sarah, Simon, Anna, Thomas, Nihal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Abstracts … Esicon 2021
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067832/
http://dx.doi.org/10.4103/2230-8210.342239

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