Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

Bardet‐Biedl syndrome (BBS) is an emblematic ciliopathy associated with retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction. Before birth, enlarged/cystic kidneys as well as polydactyly are the hallmark signs of BBS to consider in absence of f...

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Bibliographic Details
Published in:	Clinical genetics Vol. 95; no. 3; pp. 384 - 397
Main Authors:	Mary, Laura, Chennen, Kirsley, Stoetzel, Corinne, Antin, Manuela, Leuvrey, Anne, Nourisson, Elsa, Alanio‐Detton, Elisabeth, Antal, Maria C., Attié‐Bitach, Tania, Bouvagnet, Patrice, Bouvier, Raymonde, Buenerd, Annie, Clémenson, Alix, Devisme, Louise, Gasser, Bernard, Gilbert‐Dussardier, Brigitte, Guimiot, Fabien, Khau Van Kien, Philippe, Leroy, Brigitte, Loget, Philippe, Martinovic, Jelena, Pelluard, Fanny, Perez, Marie‐Josée, Petit, Florence, Pinson, Lucile, Rooryck‐Thambo, Caroline, Poch, Olivier, Dollfus, Hélène, Schaefer, Elise, Muller, Jean
Format:	Journal Article
Language:	English
Published:	Oxford, UK Blackwell Publishing Ltd 01-03-2019 Wiley
Subjects:	antenatal presentation Autopsy Bardet‐Biedl syndrome BBS Cysts Diagnosis diagnostic strategy Fetuses Gene distribution Genetics Genotypes Hypogonadism Life Sciences Phenotypes Polydactyly Renal function Retina Retinal degeneration Ultrasound
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