Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple

Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathic human genetic disorder with variable expression that is difficult to diagnose in pregnancy without known risk factors. Homozygosity testing has been shown to be a useful tool in identifying BBS mutations and candidate genes in affecte...

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Detalles Bibliográficos
Autores principales: Baker, Tieneka M., Sturm, Erica L., Turner, Clesson E., Petersen, Scott M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3603615/
https://www.ncbi.nlm.nih.gov/pubmed/23533844
http://dx.doi.org/10.1155/2013/159143

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