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Article

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

Journal of human genetics - 1 Jul 2013

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

Abstract excerpt

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 (representing 49 families with NS) from Saudi Arabia were screened for mutations in NPHS1, NPHS2, LAMB2, PLCE1, CD2AP,...

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Source

Identifiers

PMID: 23595123
DOI: 10.1038/jhg.2013.27

Genes

NEIL1
NPHS1
NPHS2
PLCE1
PTPRO
LAMB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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