A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity
We expand and further delineate the genotypic and phenotypic spectrum of ICPPS. Further studies are necessary to shed light on the potential effect of this variant and on the variable phenotypic expressivity of TBX4-related phenotypes.
Authors
- Monica Miozzo (ORCID: https://orcid.org/0000-0002-6523-4575)
- Laura Fontana (ORCID: https://orcid.org/0000-0001-9517-6997)
- Giada Moresco (ORCID: https://orcid.org/0000-0002-6778-0940)
- Silvia Maria Sirchia (ORCID: https://orcid.org/0000-0002-6106-3721)
- Angela Peron (ORCID: https://orcid.org/0000-0002-1769-6548)
- Daniela Graziani (ORCID: https://orcid.org/0000-0003-0523-3199)
- Ornella Rondinone (ORCID: https://orcid.org/0000-0001-7057-5684)
- L. Pietrogrande (ORCID: https://orcid.org/0000-0002-2417-2638)
- Alessia Mauri (ORCID: https://orcid.org/0000-0001-5675-5347)
- Rita Gorgoglione
- Michal Dziuback
Institutions
- AOL (United States) (US)
- University of Milan (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Ospedale San Paolo (IT)
- Meyer Children's Hospital (IT)
- Istituto Nazionale Genetica Molecolare (IT)
- Azienda Socio Sanitaria Territoriale Santi Paolo e Carlo
- University of Florence (IT)
Publication Details
- Journal
- Genes & Genomics
- Published
- 2024-10-28
- DOI
- https://doi.org/10.1007/s13258-024-01589-5
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Università degli Studi di Milano