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

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...

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Detalles Bibliográficos
Autores principales: Dong, Xingsheng, Li, Zhiming, Wang, Degang, Xiong, Yi, Li, Haijun, Yang, Pu, Lao, Lanyu, Man, Tingting, Gan, Yujie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9627110/
https://www.ncbi.nlm.nih.gov/pubmed/36340607
http://dx.doi.org/10.3892/etm.2022.11657

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9627110/
https://www.ncbi.nlm.nih.gov/pubmed/36340607
http://dx.doi.org/10.3892/etm.2022.11657

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