Immunodeficiency in cartilage‐hair hypoplasia: Pathogenesis, clinical course and management

Author:

Vakkilainen Svetlana123ORCID,Taskinen Mervi1,Mäkitie Outi12345

Affiliation:

1. Pediatric Research Center Children's Hospital University of Helsinki and Helsinki University Hospital Helsinki Finland

2. Folkhälsan Research Center Institute of Genetics Helsinki Finland

3. Research Program for Clinical and Molecular Metabolism Faculty of Medicine University of Helsinki Helsinki Finland

4. Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet Stockholm Sweden

5. Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden

Funder

Sigrid Juséliuksen Säätiö

Academy of Finland

Novo Nordisk Fonden

Barncancerfonden

Lastentautien Tutkimussäätiö

Publisher

Wiley

Subject

Immunology,General Medicine

Reference72 articles.

1. Les formes partielles de la dysostose metaphysaire;Maroteaux SP;Presse Med,1983

2. DWARFISM IN THE AMISH. II. CARTILAGE‐HAIR HYPOPLASIA;McKusick VA;Bull Johns Hopkins Hosp,1965

3. Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.

4. Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patients

5. Increased mortality in cartilage-hair hypoplasia

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