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Article

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

European journal of human genetics : EJHG - 1 Jul 2020

Kleinendorst Lotte, Alsters Sanne I M, Abawi Ozair, Waisfisz Quinten, Boon Elles M J, van den Akker Erica L T, van Haelst Mieke M

Abstract excerpt

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 the case of an 11-year-old girl who presented with postaxial polydactyly, retinal dystrophy, and childhood obesity,...

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Identifiers

PMID: 32144365
DOI: 10.1038/s41431-020-0594-z
PMCID: PMC7316806

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Source receipt: pubmed, retrieved 7 Sept 2026.

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