Prenatal diagnosis of Bardet‑Biedl syndrome due to novel variants in the BBS10 gene in a fetus with multiple anomalies: A case report-Reference-Cited by-同舟云学术

Prenatal diagnosis of Bardet‑Biedl syndrome due to novel variants in the BBS10 gene in a fetus with multiple anomalies: A case report

Published:2022-10-18 Issue:6 Volume:24 Page:
ISSN:1792-0981
Container-title:Experimental and Therapeutic Medicine
language:
Short-container-title:Exp Ther Med

Author:

Dong Xingsheng¹,Li Zhiming¹,Wang Degang¹,Xiong Yi¹,Li Haijun¹,Yang Pu²,Lao Lanyu²,Man Tingting¹,Gan Yujie³

Affiliation:

1. Prenatal Diagnosis Center, Boai Hospital of Zhongshan Affiliated to Southern Medical University, Zhongshan, Guangdong 528403, P.R. China

2. Department of Ultrasonic Diagnosis, Boai Hospital of Zhongshan Affiliated to Southern Medical University, Zhongshan, Guangdong 528403, P.R. China

3. Department of Obstetrics and Gynecology, Boai Hospital of Zhongshan Affiliated to Southern Medical University, Zhongshan, Guangdong 528403, P.R. China

Publisher

Spandidos Publications

Subject

Cancer Research,Immunology and Microbiology (miscellaneous),General Medicine

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1. Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients;Orphanet Journal of Rare Diseases;2024-04-08

2. Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China;Frontiers in Genetics;2023-11-15

3. Bardet-Biedl Syndrome: a case report of delayed diagnosis with variable presentation and role of genetic testing in definitive diagnosis;Egyptian Pediatric Association Gazette;2023-10-30

4. Molecular and Phenotypic Characteristics of Bardet-Biedl Syndrome in Chinese Patients;2023-10-06