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.

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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
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article

Bright and enlarged fetal kidneys: One phenotype different genotypes, and counseling dilemmas

Shreyasi Sharma, Preeti Paliwal, Seema Thakur
Journal of Clinical Ultrasound
Renal and related cancers
article

Bright and enlarged fetal kidneys: One phenotype different genotypes, and counseling dilemmas

Shreyasi Sharma, Preeti Paliwal, Seema Thakur
article en

Abstract

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.

Journal of Clinical UltrasoundVol. 52(9)
Fortis Hospital (IN)
Good health and well-being
Openalex Percentile: Top 87%
Renal and related cancers
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