Second case of Bardet–Biedl syndrome caused by biallelic variants in IFT74

Bardet–Biedl syndrome (BBS) is a rare autosomal recessive disorder of the cilia, often resulting in a phenotype of obesity, rod-cone dystrophy, a variable degree of intellectual disability, polydactyly, renal problems, and/or hypogonadism in males or genital abnormalities in females. We here report...

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Publicat a:Eur J Hum Genet
Autors principals: Kleinendorst, Lotte, Alsters, Sanne I. M., Abawi, Ozair, Waisfisz, Quinten, Boon, Elles M. J., van den Akker, Erica L. T., van Haelst, Mieke M.
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2020
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7316806/
https://ncbi.nlm.nih.gov/pubmed/32144365
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0594-z
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