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pro vyhledávání: '"Muhammad Akram Shahzad Khokhar"'
Autor:
Syed Irfan Raza, Muhammad Zeeshan Anwar, Wasim Ahmad, Thashi Bharadwaj, Michael J. Bamshad, Abdul Nasir, Deborah A. Nickerson, Jenna L. Everard, Khurram Liaqat, Suzanne M. Leal, Muhammad Ansar, Isabelle Schrauwen, Anushree Acharya, Muhammad Akram Shahzad Khokhar
Publikováno v:
Journal of Human Genetics
J Hum Genet
J Hum Genet
Background Wolfram syndrome (WFS) is characterized by deafness, diabetes mellitus, and diabetes insipidus along with optic atrophy. WFS has an autosomal recessive mode of inheritance and is due to variants in WFS1 and CISD2. Methods We evaluated the