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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Bibliografische gegevens
Gepubliceerd in:Clin Kidney J
Hoofdauteurs: Al-Hamed, Mohamed H., Kurdi, Wesam, Alsahan, Nada, Ambosaidi, Qaamariya, Tulbah, Maha, Sayer, John A.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2016
Onderwerpen:
Rare Diseases
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5162405/
https://ncbi.nlm.nih.gov/pubmed/27994858
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ckj/sfw057
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