Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.

Authors:
Peng Y; Zhou L; Chen J; Huang X; Pang J and 5 more

Journal:
BMC Med Genomics

Publication Year: 2023

DOI:
10.1186/s12920-023-01753-y

PMCID:
PMC10704717

PMID:
38062428

Journal Information

Full Title: BMC Med Genomics

Abbreviation: BMC Med Genomics

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
4/6
66.7% Transparent
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Evidence found in paper:

"availability of data and materials the data that support the findings of this study are available via the bioproject database (accession: prjna878618) at https://ncbi nlm nih gov/bioproject/ . availability of data and materials the data that support the findings of this study are available via the bioproject database (accession: prjna878618"

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Evidence found in paper:

"Declarations Ethics approval and consent to participateThe study was approved by the Ethics Committee of Hunan Provincial Maternal and Child Health Care Hospital. All methods were performed in accordance with the Declaration of Helsinki. Written informed consent was obtained from patients or patients’ legal representative for participating in the study. Consent for publicationNot applicable. Competing interestsAll authors declare that they have no commercial or other conflicting interests. Competing interests All authors declare that they have no commercial or other conflicting interests."

Evidence found in paper:

"Funding This research was supported by The National Key Research and Development Program of China(2021YFC1005305), The Major Scientific and Technological Projects for Collaborative Prevention and Control of Birth Defects in Hunan Province (2019SK1013 and 2019SK1015), and Natural Science Foundation of Hunan Province (2018JJ3274)."

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Open Access
Paper is freely available to read
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Last Updated: Aug 05, 2025