A Maternal Loss‐of‐Function Variant in <scp><i>KHDC3L</i></scp> Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report
This is the first report of a maternal loss-of-function variant in KHDC3L gene in a patient experiencing various types of pregnancy loss. This case report broadens the understanding of KHDC3L's pathogenic variants and phenotypic spectrum, consistent with its crucial role during human pre- and post-implantation development.
Authors
- Maria Vittoria Cubellis (ORCID: https://orcid.org/0000-0001-6147-6553)
- Farnoosh Jafarpour
- Andrea Riccio (ORCID: https://orcid.org/0000-0001-7990-3576)
- Zahra Anvar (ORCID: https://orcid.org/0000-0002-5990-0068)
- Mohammad Hossein Nasr‐Esfahani (ORCID: https://orcid.org/0000-0003-1983-3435)
- Bahia Namavar Jahromi (ORCID: https://orcid.org/0000-0002-7839-9627)
Institutions
- Baylor College of Medicine (US)
- Shiraz University of Medical Sciences (IR)
- University of Campania "Luigi Vanvitelli" (IT)
- Royan Institute (IR)
- Academic Center for Education, Culture and Research (IR)
- Neurological Research Institute (US)
- Institute of Genetics and Biophysics (IT)
- Texas Children's Hospital (US)
- University of Naples Federico II (IT)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1002/mgg3.70051
- Citations
- 3
- Primary Topic
- Gestational Trophoblastic Disease Studies
- Type
- article
- Field-Weighted Citation Impact
- 5.64
Funders
- Associazione Italiana per la Ricerca sul Cancro