Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in addit...
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance
About this item
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Author / Creator
University of Washington Center for Mendelian Genomics , Liaqat, Khurram , Schrauwen, Isabelle , Raza, Syed Irfan , Lee, Kwanghyuk , Hussain, Shabir , Chakchouk, Imen , Nasir, Abdul , Acharya, Anushree , Abbe, Izoduwa , Umair, Muhammad , Ansar, Muhammad , Ullah, Irfan , Shah, Khadim , Bamshad, Michael J. , Nickerson, Deborah A. , Ahmad, Wasim and Leal, Suzanne M.
Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
Sinoatrial node dysfunction and deafness (SANDD) syndrome is rare and characterized by a low heart beat and severe-to-profound deafness. Additional features include fatigue, dizziness, and episodic syncope. The sinoatrial node (SAN) drives heart automaticity and continuously regulates heart rate. The CACNA1D gene encoding the Ca
1.3 protein expr...
Alternative Titles
Full title
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance
Authors, Artists and Contributors
Author / Creator
Liaqat, Khurram
Schrauwen, Isabelle
Raza, Syed Irfan
Lee, Kwanghyuk
Hussain, Shabir
Chakchouk, Imen
Nasir, Abdul
Acharya, Anushree
Abbe, Izoduwa
Umair, Muhammad
Ansar, Muhammad
Ullah, Irfan
Shah, Khadim
Bamshad, Michael J.
Nickerson, Deborah A.
Ahmad, Wasim
Leal, Suzanne M.
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6561484
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6561484
Other Identifiers
ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-018-0542-8
