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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Detaylı Bibliyografya
Yayımlandı:Clin Kidney J
Asıl Yazarlar: Al-Hamed, Mohamed H., Kurdi, Wesam, Alsahan, Nada, Ambosaidi, Qaamariya, Tulbah, Maha, Sayer, John A.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2016
Konular:
Rare Diseases
Online Erişim: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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