Prenatal Diagnosis of Bardet-Biedl Syndrome: A Case Study and Review of Literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s40556-020-00278-z.pdf
Reference19 articles.
1. Forsythe E, Beales PL. Bardet-Biedl syndrome. Eur J Hum Genet. 2013;21:8–13.
2. Slavotinek AM, Biesecker LG. Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: a literature review. Am J Med Genet. 2000;95:208–15.
3. Hooda AK, Karan SC, Bishnoi JS, Nandwani A, Sinha T. Renal transplant in a child with Bardet-Biedl syndrome: a rare cause of end-stage renal disease. Indian J Nephrol. 2009;19:112–4.
4. Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, et al. Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population based, cohort study. Am J Med Genet. 2005;132:352–6.
5. Gaucherand P, Vavasseur-Monot C, Ollagnon E, Boisson C, Labaune JM, Basset T, et al. McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up. Prenat Diagn. 2002;22:1048–50.
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1. Fetal ascites in third trimester as novel prenatal finding in Bardet–Biedl syndrome and subsequent unaffected live birth assisted by preimplantation genetic diagnosis;Ultrasound in Obstetrics & Gynecology;2023-05
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