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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....
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2022
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Materias: | |
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 |