Novel homozygous nonsense mutation associated with Bardet–Biedl syndrome in fetuses with congenital renal malformation

BACKGROUND: The Bardet–Biedl syndrome (BBS) is a rare autosomal recessive disorder, characterized by clinical and genetic heterogeneity. BBS is more commonly reported in adults and children than in fetuses. Here, a retrospective study on 210 fetuses with congenital renal malformation was conducted....

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Detalles Bibliográficos
Autores principales: Cai, Meiying, Lin, Min, Lin, Na, Xu, Liangpu, Huang, Hailong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9371496/
https://www.ncbi.nlm.nih.gov/pubmed/35960079
http://dx.doi.org/10.1097/MD.0000000000030003

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