Broadening the phenotype of the TWNK gene associated Perrault syndrome
Abstract Background Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms. We present the case of a 33 years old female patient with TWNK-associated Perrault syndrome. The TWNK gene is...
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| Main Authors: | , , , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2019-12-01T00:00:00Z.
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