Bright and enlarged fetal kidneys: One phenotype different genotypes, and counseling dilemmas
In the era of exome sequencing, targeted gene sequencing is getting replaced and for better. However not all answers are direct, and sometimes the variant categorization is dependent on the acumen and agreement of all those involved in the process. It includes those involved the diagnostic as well those catering to the patients. It is very important to be updated on the relevance of multiple gene in causing similar phenotypes particularly in the prenatal context were coming up with a timely diagnosis is very important for any sort of intervention.
Authors
- Shreyasi Sharma (ORCID: https://orcid.org/0000-0002-8271-4490)
- Preeti Paliwal (ORCID: https://orcid.org/0000-0002-0005-6050)
- Seema Thakur (ORCID: https://orcid.org/0000-0002-3280-6936)
Institutions
- Fortis Hospital (IN)
Publication Details
- Journal
- Journal of Clinical Ultrasound
- Published
- 2024-09-05
- DOI
- https://doi.org/10.1002/jcu.23797
- Primary Topic
- Renal and related cancers
- Type
- article
- Field-Weighted Citation Impact
- 0.00