Skip to Main Content

Paper Details

Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.
Hum Mutat
30
2019
22kb homozygous deletion, Kilquist syndrome, SLC12A2, SLC12A2 transcripts, Slc12a2, Syndromic sensorineural hearing loss, Undiagnosed Diseases, absent salivation, child, chloride, chromosome 5, deafness, derived fibroblasts, gastrointestinal abnormalities, genetic syndrome, global developmental delay, malformations of the ear and other organ systems, mice, mouse, patient, potassium, sensorineural hearing loss, sodium, sodium, potassium, and chloride transporter, syndromic hearing loss disorder, uniparental isodisomy
Author NameAffiliation
Ellen MacnamaraNational Institutes of Health Undiagnosed Diseases Program
Ellen MacnamaraOffice of the Clinical Director, National Human Genome Research Institute National Human Genome Research Institute, National Institutes of Health
James M HoltSaint Louis University School of Medicine
Prashant SharmaHudsonAlpha Institute for Biotechnology
May Christine V MalicdanNational Institutes of Health Undiagnosed Diseases Program
May Christine V MalicdanNational Institutes of Health Undiagnosed Diseases Program
Cynthia J TifftNational Institutes of Health Undiagnosed Diseases Program
Cynthia J TifftOffice of the Clinical Director, National Human Genome Research Institute National Human Genome Research Institute, National Institutes of Health
Cynthia J TifftNational Institutes of Health Undiagnosed Diseases Program
Cynthia J TifftOffice of the Clinical Director, National Human Genome Research Institute National Human Genome Research Institute, National Institutes of Health
  • 1 - 10

Datasets

Release 1.2