Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease

We report a 29-year-old gravida 2, para 0100, who presented at 19 weeks and 4 days of gestation for ultrasound to assess fetal anatomy. Routine midtrimester fetal anatomy ultrasound revealed enlarged, hyperechoic fetal kidneys and normal amniotic fluid index. Follow-up ultrasound at 23 weeks and 5 d...

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Detalles Bibliográficos
Autores principales: Thakur, Pankaj, Speer, Paul, Rajkovic, Aleksandar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4120792/
https://www.ncbi.nlm.nih.gov/pubmed/25114813
http://dx.doi.org/10.1155/2014/517952

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4120792/
https://www.ncbi.nlm.nih.gov/pubmed/25114813
http://dx.doi.org/10.1155/2014/517952

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