Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13
About this item
Full title
Author / Creator
University of Washington Center for Mendelian Genomics , 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 and Leal, Suzanne M.
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
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.
We evaluated the underlying molecular etiology of three affected members of a consanguineous family with hearing impairment, bicuspid...
Alternative Titles
Full title
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8472924
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8472924
Other Identifiers
ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-021-00922-0
