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Prenatal diagnosis of Bardet-Biedl syndrome: a multidisciplinary approach
Bardet-Biedl syndrome (BBS) is a rare ciliopathic human genetic disorder with mainly an autosomal recessive inheritance. BBS phenotype develops over the years and diagnosis is usually made in late childhood or early adulthood. Prenatal diagnosis is rare in the absence of family history or consanguin...
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| Publicado no: | BMJ Case Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7799144/ https://ncbi.nlm.nih.gov/pubmed/33419754 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-238445 |
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