Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report
Background: ATP6V1B2 gene mutation is associated with Zimmermann-Laband syndrome 2 (ZLS2), which is a rare developmental disorder characterized by nail hypoplasia and hereditary deafness. Case Presentation: We report a new phenotypic mutation of ATP6V1B2 associated with ZLS 2. The patient has atresi...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Discover STM Publishing Ltd
2021-12-01
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| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=54977 |