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

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 underlying molecular etiology of three affected...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8472924/
https://www.ncbi.nlm.nih.gov/pubmed/33879837
http://dx.doi.org/10.1038/s10038-021-00922-0

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