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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Bibliografiske detaljer
Udgivet i:Clin Kidney J
Main Authors: Al-Hamed, Mohamed H., Kurdi, Wesam, Alsahan, Nada, Ambosaidi, Qaamariya, Tulbah, Maha, Sayer, John A.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2016
Fag:
Rare Diseases
Online adgang: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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