Prenatal diagnosis of Bardet–Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing

Bardet–Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged...

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Detalles Bibliográficos
Autores principales: Garcia‐Tizon Larroca, Santiago, Blagoeva Atanasova, Vangeliya, Orera Clemente, Maria, Aluja Mendez, Anna, Ortega Abad, Virginia, Perez Fernandez‐Pacheco, Ricardo, De León Luis, Juan, Gamez Alderete, Francisco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378842/
https://www.ncbi.nlm.nih.gov/pubmed/28396767
http://dx.doi.org/10.1002/ccr3.859
Descripción
Sumario:Bardet–Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly.

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