Variability in Inner Ear Morphology Among a Family With Pendred Syndrome Due to a SLC26A4 Gene Variant.

Yung-Hsuan ChenWei-Che LinChung-Feng HwangMeng-Han TsaiChao-Hui Yang

Published in: The Annals of otology, rhinology, and laryngology (2024)

This report highlights the significance of genetic testing and familial consultation when a proband exhibits typical Pendred syndrome symptoms. It also underscores that the inner ear morphology can exhibit variability among family members, even with the same homozygous SLC26A4 variant.

Keyphrases

case report
palliative care
genome wide
early onset
copy number
gene expression
sleep quality
transcription factor