[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease].

The c.11098C>T (p.R3700C) and c.11039T>C (p.F3680S) compound heterozygous variants of the PKD1 gene probably underlay the ADPKD in the fetus. Above finding has provided guidance for the genetic counseling and prenatal diagnosis for this pedigree.

Authors

Chunlan Zheng (ORCID: https://orcid.org/0009-0006-4277-4655)
Zhihua Tang
C.Y. Zhang
Hongjun Guo
Yan Wang (ORCID: https://orcid.org/0000-0002-4751-0708)
Zhengxia He
Qian Ma
Wenwen Wang (ORCID: https://orcid.org/0000-0003-1547-5714)

Institutions

First Affiliated Hospital of Zhengzhou University (CN)

Publication Details

Journal: PubMed
Published: 2024-09-10
DOI: https://doi.org/10.3760/cma.j.cn511374-20230523-00311
Primary Topic: Genetic and Kidney Cyst Diseases
Type: article

Controls

|||

ALL TIME

JAN

FEB

MAR

APR

MAY

JUN

JUL

AUG

SEP

OCT

article

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease].

Chunlan Zheng, Zhihua Tang, C.Y. Zhang, Hongjun Guo et al.

Sep 10, 2024

PubMed

Genetic and Kidney Cyst Diseases

article

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease].

Chunlan Zheng, Zhihua Tang, C.Y. Zhang, Hongjun Guo, Yan Wang, Zhengxia He, Qian Ma, Wenwen Wang

September 10, 2024article en

Abstract

The c.11098C>T (p.R3700C) and c.11039T>C (p.F3680S) compound heterozygous variants of the PKD1 gene probably underlay the ADPKD in the fetus. Above finding has provided guidance for the genetic counseling and prenatal diagnosis for this pedigree.

PubMedVol. 41(9)

First Affiliated Hospital of Zhengzhou University (CN)

Genetic and Kidney Cyst Diseases

DOI Source OpenAlex

AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.