A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families

Nephrotic syndrome (NS) is a renal disease characterized by heavy proteinuria, hypoalbuminemia, edema and hyperlipidemia. Its presentation within the first 3 months of life or in multiple family members suggests an underlying inherited cause. To determine the frequency of inherited NS, 62 cases (rep...

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Veröffentlicht in:	Journal of human genetics 2013-07, Vol.58 (7), p.480-489
Hauptverfasser:	Al-Hamed, Mohamed H, Al-Sabban, Essam, Al-Mojalli, Hamad, Al-Harbi, Naffaa, Faqeih, Eissa, Al Shaya, Hammad, Alhasan, Khalid, Al-Hissi, Safaa, Rajab, Mohamed, Edwards, Noel, Al-Abbad, Abbas, Al-Hassoun, Ibrahim, Sayer, John A, Meyer, Brian F
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Child, Preschool Childhood Children Edema Endonuclease Endonuclease VIII Female Genetic analysis Genetic screening Genetic Testing Homozygote Humans Hyperlipidemia Infant Intracellular Signaling Peptides and Proteins - genetics Kidney diseases Male Membrane Proteins - genetics Mutation Myosin Type I - genetics Nephrotic syndrome Nephrotic Syndrome - genetics Pathogenicity Phosphoinositide Phospholipase C - genetics Proteinuria Saudi Arabia
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