Prenatal diagnosis of Bardet Biedl Syndrome: A case report

The Bardet-Biedl Syndrome (BBS), also called Laurence-Moon-Bardet-Biedl syndrome is a rare ciliopathic autosomal recessive genetic defect. BBS phenotype develops over the years and diagnosis is usually made in late childhood or early adulthood. Prenatal diagnosis is rare in absence of family history...

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Detalles Bibliográficos
Autores principales: Arora, Ena, Fuks, Aleksandr, Meyer, Jessica, Chervenak, Judith
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668600/
https://www.ncbi.nlm.nih.gov/pubmed/36406960
http://dx.doi.org/10.1016/j.radcr.2022.10.040

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668600/
https://www.ncbi.nlm.nih.gov/pubmed/36406960
http://dx.doi.org/10.1016/j.radcr.2022.10.040

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