Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts
Priya Landa; Ann‐Marie Differ; Kaukab Rajput; Lucy Jenkins; Maria Bitner‐Glindzicz · 2013 · BMC Medical Genetics
WASTE classifies this as Negative / Null Result Report · AI classification, approximate
The study found no significant effect — useful as a negative control or null benchmark for your own design.
Abstract
BACKGROUND: Pendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia. Hearing impairment and EVA may occur in the absence of goitre or thyroid dyshormonogensis in a condition known as non-syndromic EVA. A significant number of patients with Pendred syndrome and non-syndromic EVA show only one mutation in SLC26A4. Two genes, KCNJ10, encoding an inwardly rectifying potassium channel and FOXI1, a transcriptional factor gene, are thought to play a rol
Abstract by Priya Landa; Ann‐Marie Differ; Kaukab Rajput; Lucy Jenkins; Maria Bitner‐Glindzicz, BMC Medical Genetics (2013) — licensed CC BY 4.0.
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Metadata source: OpenAlex · DOI 10.1186/1471-2350-14-85