Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13

Acharya, Anushree ; Raza, Syed Irfan ; Anwar, Muhammad Zeeshan ; Bharadwaj, Thashi ; Liaqat, Khurram ; Khokhar, Muhammad Akram Shahzad ; Everard, Jenna L ; Nasir, Abdul ; Nickerson, Deborah A ; Bamshad, Michael J ; Ansar, Muhammad ; Schrauwen, Isabelle ; Ahmad, Wasim ; Leal, Suzanne M

Journal of human genetics, 2021-10, Vol.66 (10), p.1009-1018 [Periódico revisado por pares]

England: Nature Publishing Group

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