Novel compound heterozygous OBSCN variants in Chinese children with congenital pulmonary airway malformation
The OBSCN gene may play a key role in pseudoglandular stage during mouse lung development. The mutation of OBSCN gene may play a role in promoting the occurrence of CPAM, providing a possible therapeutic target for clinical intervention of CPAM.
Authors
- Jirong Qi (ORCID: https://orcid.org/0000-0003-4263-0265)
- Xuming Mo (ORCID: https://orcid.org/0000-0002-2264-6123)
- Jiali Xu (ORCID: https://orcid.org/0000-0001-7047-7240)
- Siyu Ma (ORCID: https://orcid.org/0000-0001-9497-9317)
- Min Da
- Zhaocong Yang (ORCID: https://orcid.org/0000-0002-2133-2333)
- Yang Xu (ORCID: https://orcid.org/0000-0003-4737-5523)
Institutions
- Nanjing Children's Hospital (CN)
- Second Affiliated Hospital of Nanjing Medical University (CN)
- Nanjing Medical University (CN)
Publication Details
- Journal
- The Italian Journal of Pediatrics/Italian journal of pediatrics
- Published
- 2025-03-28
- DOI
- https://doi.org/10.1186/s13052-025-01942-8
- Primary Topic
- Congenital Diaphragmatic Hernia Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Jiangsu Province