Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy-Reference-Cited by-同舟云学术

Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy

Published:2021-07-14 Issue:4 Volume:100 Page:453-461
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Rapp Christina K.¹^ORCID,Van Dijck Ine²,Laugwitz Lucia³⁴,Boon Mieke²,Briassoulis George⁵,Ilia Stavroula⁵,Kammer Birgit⁶,Reu Simone⁷,Hornung Stefanie⁸,Buchert Rebecca³,Sofan Linda³,Froukh Tawfiq⁹^ORCID,Witters Peter¹⁰,Rymen Daisy¹⁰,Haack Tobias B.⁷¹¹,Proesmans Marijke²,Griese Matthias¹

Affiliation:

1. Dr. von Haunersches Kinderspital University of Munich, German Center for Lung Research Munich Germany

2. Department of Pediatric Pulmonology University Hospitals Leuven campus Gasthuisberg Leuven Belgium

3. Institute of Medical Genetics and Applied Genomics University Hospital of Tuebingen Tübingen Germany

4. Department of Neuropediatrics, Developmental Neurology and Social Pediatrics University of Tübingen Tübingen Germany

5. Pediatric Intensive Care Unit, Medical School University of Crete Crete Greece

6. Department of Radiology, Pediatric Radiology University of Munich Munich Germany

7. Institute of Pathology University of Würzburg Würzburg Germany

8. Consulting & Training SH Mgt. Consulting & Training Siegmund‐Schacky‐Straße 27 Munich Germany

9. Department of Biotechnology and Genetic Engineering Philadelphia University Amman Jordan

10. Department of Pediatric Metabolic disease University Hospitals Leuven campus Gasthuisberg Leuven Belgium

11. Centre for Rare Diseases University of Tübingen Tübingen Germany

Funder

Bundesministerium für Bildung und Forschung

Deutsche Forschungsgemeinschaft

Deutscher Akademischer Austauschdienst

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14016

Reference11 articles.

1. International management platform for children’s interstitial lung disease (chILD-EU)

2. Chronic interstitial lung disease in children

3. NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease

4. Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome

5. Genetic basis of neurodevelopmental disorders in 103 Jordanian families

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