[Interestingly, molecular genetic testing showed that, whereas the elder sister is affected by PS, the younger sister has both PS (due to compound heterozygous SLC26A4 mutations) and RTH (due to a novel de novo heterozygous THRB mutation).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE