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Two Cases With Neonatal Cholestasis and Renal Disorders Due to DCDC2 Mutation.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation - 1 May 2022

Teker Düztaş Demet, Sarı Sinan, Eğritaş Gürkan Ödül, Kayhan Gülsüm, Dalgıç Aydın, Dalgıç Buket

Abstract excerpt

Ciliopathies are a heterogeneous group of diseases that are observed after deterioration of the ciliary structures on the cell surface that facilitate communication with the environment. Both liver and kidney involvement are frequently observed in this disease. Recently, a doublecortin domain containing protein 2 (DCDC2) mutation in a ciliopathy disease group was identified. Here, we present 2 patients with this...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35570614
DOI: 10.6002/ect.PediatricSymp2022.O37

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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