Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.

doi:10.1136/jmedgenet-2015-103469

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Article

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.

Journal of medical genetics - 1 May 2016

Al-Hamed Mohamed H, Kurdi Wesam, Alsahan Nada, Alabdullah Zainab, Abudraz Rania, Tulbah Maha, Alnemer Maha, Khan Rubina, Al-Jurayb Haya, Alahmed Ahmed, Tahir Asma I, Khalil Dania, Edwards Noel, Al Abdulaziz Basma, Binhumaid Faisal S, Majid Salma, Faquih Tariq, El-Kalioby Mohamed, Abouelhoda Mohamed, Altassan Nada, Monies Dorota, Meyer Brian, Sayer John A, Albaqumi Mamdouh

Abstract excerpt

BACKGROUND: Inherited cystic kidney disorders are a common cause of end-stage renal disease. Over 50 ciliopathy genes, which encode proteins that influence the structure and function of the primary cilia, are implicated in cystic kidney disease. METHODS: To define the phenotype and genotype of cystic kidney disease in fetuses and neonates, we correlated antenatal ultrasound examination and postnatal renal...

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Identifiers

PMID: 26862157
DOI: 10.1136/jmedgenet-2015-103469
PMCID: PMC4853542

Genes

NEK8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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