Phenotypic Expansion of PPP1R12A-Related Syndrome: A Novel Splicing Variant Associated with Hearing Loss and Inner Ear Malformations.
- DOI
- 10.3390/genes17080856
- Published
- 2026 Jul 24
- Container
- Genes
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.3390/genes17080856,
title = {Phenotypic Expansion of PPP1R12A-Related Syndrome: A Novel Splicing Variant Associated with Hearing Loss and Inner Ear Malformations.},
author = {Pianigiani G and Rosso LE and Morgan A and Spedicati B and Napoli M and Caraffi SG and Coccia E and Polizzi V and Garavelli L and Girotto G},
year = {2026},
journal = {Genes},
doi = {10.3390/genes17080856},
url = {https://doi.org/10.3390/genes17080856}
}RIS
TY - JOUR TI - Phenotypic Expansion of PPP1R12A-Related Syndrome: A Novel Splicing Variant Associated with Hearing Loss and Inner Ear Malformations. AU - Pianigiani G AU - Rosso LE AU - Morgan A AU - Spedicati B AU - Napoli M AU - Caraffi SG AU - Coccia E AU - Polizzi V AU - Garavelli L AU - Girotto G PY - 2026 JO - Genes DO - 10.3390/genes17080856 UR - https://doi.org/10.3390/genes17080856 ER -
APA
G, P., LE, R., A, M., B, S., M, N., SG, C., E, C., V, P., L, G., & G, G. (2026). Phenotypic Expansion of PPP1R12A-Related Syndrome: A Novel Splicing Variant Associated with Hearing Loss and Inner Ear Malformations.. Genes. https://doi.org/10.3390/genes17080856
Source records
- pubmed · retrieved 2026-09-25T23:00:00.694Z