ArticleExperimental and therapeutic medicine2022
Prenatal diagnosis of Bardet‑Biedl syndrome due to novel variants in the BBS10 gene in a fetus with multiple anomalies: A case report.
Article in Experimental and therapeutic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
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2 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China.Frontiers in genetics · 2023Pooled it
- Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.Orphanet journal of rare diseases · 2024Article
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9 authors at 2 institutions in 1 country.
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Abstract
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by obesity, mental retardation, retinal dystrophy, hypogenitalism and renal and polydactyly malformations. The last two malformations may be observed antenatally and are highly variable, making the prenatal diagnosis of BBS challenging. The present study investigated the molecular etiology of BBS and validated a method for prenatal diagnosis. A Chinese couple who had conceived two fetuses with multiple malformations, including hyperechogenic kidneys, polydactyly, cardiac malformation and abdominal abnormalities, presented at the Prenatal Diagnosis Center of Boai Hospital of Zhongshan Affiliated to Southern Medical University (Zhongshan, China) in November 2018. BBS was suspected and whole-exome sequencing was performed for the second fetus. Two novel compound heterozygous variants were detected in the
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