A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung

A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung

Introduction Pulmonary fibrosis is a severe disease which can be familial. A genetic cause can only be found in ∼40% of families. Searching for shared novel genetic variants may aid the discovery of new genetic causes of disease. Methods Whole-exome sequencing was performed in 152 unrelated patients...

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Main Authors: Karlijn Groen, Joanne J. van der Vis, Aernoud A. van Batenburg, Karin M. Kazemier, Marjolein J.W. de Bruijn, Ralph Stadhouders, Pascal Arp, Annemieke J.M.H. Verkerk, Angela E. Schoemaker, Charlotte I. de Bie, Maarten P.G. Massink, Frouke T. van Beek, Jan C. Grutters, Leonie J.M. Vergouw, Coline H.M. van Moorsel
Format: Article
Language:English
Published: European Respiratory Society 2024-02-01
Series:ERJ Open Research
Online Access:http://openres.ersjournals.com/content/10/1/00487-2023.full

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http://openres.ersjournals.com/content/10/1/00487-2023.full

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