Waardenburg-Shah syndrome
Diagnosis certain
Disclosures
- updated 10 Aug 2022:
Nothing to disclose
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Genetically confirmed Waardenburg-Shah syndrome (Waardenburg type IV) due to a de novo c.897.del mutation of SOX10. MRI shows delayed myelination and vestibular/cochlear malformations, common findings in this rare disease.
-<p>Genetically confirmed <a title="Waardenburg syndrome" href="/articles/waardenburg-syndrome-1">Waardenburg-Shah syndrome (Waardenburg type IV)</a> due to a de novo c.897.del mutation of SOX10.</p>- +<p>Genetically confirmed <a href="/articles/waardenburg-syndrome-1">Waardenburg-Shah syndrome (Waardenburg type IV)</a> due to a de novo c.897.del mutation of SOX10. MRI shows delayed myelination and vestibular/cochlear malformations, common findings in this rare disease.</p>
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