Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of<i>SLC12A2</i>
Syndromic sensorineural hearing loss is multigenic and associated with malformations of the ear and other organ systems. Herein we describe a child admitted to the NIH Undiagnosed Diseases Program with global developmental delay, sensorineural hearing loss, gastrointestinal abnormalities, and absent...
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| Hoofdauteurs: | , , , , , , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Engels |
| Gepubliceerd in: |
2019
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| Online toegang: | https://doi.org/10.1002/humu.23722 |
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