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  • Wolfram syndrome: clinical and genetic profiling of a cohort from a tertiary care centre with characterization of the primary gonadal failure.

Wolfram syndrome: clinical and genetic profiling of a cohort from a tertiary care centre with characterization of the primary gonadal failure.

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2020 Aug Observational studies L Das, A Rai, R Mavuduru, K Vaiphei, A Sharma… - Endocrine, 2020 - Springer

Full Author : ['Das, Liza', 'Rai, Ashutosh', 'Mavuduru, Ravimohan', 'Vaiphei, Kim', 'Sharma, Akhilesh', 'Gupta, Vishali', 'Bhadada, Sanjay Kumar', 'Lodha, Sailesh', 'Panda, Naresh', 'Bhansali, Anil', 'Singh, Paramjeet', 'Dutta, Pinaki']
Journal Title : Endocrine
Chapter : Section16, Section2, Section8
Journal Year : 2020
Cited by : 6

BACKGROUND: Wolfram syndrome (WFS) is a rare, monogenic neurodegenerative syndrome characterised by insulin requiring non-autoimmune diabetes mellitus (DM) and optic atrophy which are usually the earliest and commonest manifestations. However, there are o..... Read More

Keywords : ['wolfram syndrome clinical', 'tertiary care centre', 'primary gonadal failure', 'genetic profiling', 'cohort', 'characterization']
PubMed Link : https://link.springer.com/article/10.1007/s12020-020-02320-6
Google Scholar Link : https://scholar.google.com/scholar?cites=14429876537522627344&as_sdt=5,44&sciodt=0,44&hl=en&num=20