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Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China

Crossref DOI link: https://doi.org/10.1186/s12920-023-01631-7

Published Online: 2023-08-17

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Yan, Lulu

Cao, Juan

Zhang, Yuxin

Liu, Yingwen

Zou, Jinghui

Lou, Biying

Zhuang, Danyan

Li, Haibo
Funding

Funding for this research was provided by:

Medical and Health Project of Zhejiang Province (2020KY890)

Science and Technology Development Program of Ningbo (202002N3150, 2022S035)

Innovation Project of Distinguished Medical Team in Ningbo (2022020405)
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Text and Data Mining valid from 2023-08-17

Version of Record valid from 2023-08-17
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Article History

Received: 21 April 2023

Accepted: 11 August 2023

First Online: 17 August 2023

Declarations

:

: The study was approved by the Hospital Ethics Committee of Ningbo Women and Children’s Hospital (approval number EC2020-014). Each patient signed an informed consent prior to enrollment in the study.

: The whole methods/steps were implemented according to the related regulations and guidelines.

: Written informed consent was obtained from the patient’s parents for publication of the research and any accompanying images.

: The authors declare no competing interests.

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