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  • Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome.

Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome.

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2022 Oct Others Fist_Author_Year_PM

Full Author : ['Kumari, Riyanka', 'Holla, Vikram V', 'Phulpagar, Prashant', 'Sriram, Neeharika', 'Hegde, Aditya G', 'Vengalil, Seena', 'Kamble, Nitish', 'Saini, Jitender', 'Yadav, Ravi', 'Pal, Pramod Kumar', 'Muthusamy, Babylakshmi']
Journal Title : Journal of neuroendocrinology
Chapter : Section3
Journal Year : 2022
Cited by : Not Available

Woodhouse-Sakati syndrome (WSS) is an extremely rare multisystemic disorder with neuroendocrine dysfunctions. It is characterized by hypogonadism, alopecia, diabetes mellitus, intellectual disability and progressive extrapyramidal syndrome along with radi.....

Keywords : ["novel pathogenic splice site mutation", "gene underlie woodhousesakati syndrome", "whole exome sequence", "transcript analysis discover"]