Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family

Autosomal recessive renal tubular dysgenesis (RTD) is a rare lethal disease affecting renal development before birth. RTD is manifested by anuria and severe hypotension resulting in oligohydramnios and birth defects known as Potter's syndrome. Homozygous or compound heterozygous mutations in ge...

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Detalles Bibliográficos
Autores principales: Al-Hamed, Mohamed H., Kurdi, Wesam, Alsahan, Nada, Ambosaidi, Qaamariya, Tulbah, Maha, Sayer, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Rare Diseases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5162405/
https://www.ncbi.nlm.nih.gov/pubmed/27994858
http://dx.doi.org/10.1093/ckj/sfw057

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5162405/
https://www.ncbi.nlm.nih.gov/pubmed/27994858
http://dx.doi.org/10.1093/ckj/sfw057

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