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Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia.
Kostjukovits, Svetlana; Klemetti, Paula; Valta, Helena; Martelius, Timi; Notarangelo, Luigi D; Seppänen, Mikko; Taskinen, Mervi; Mäkitie, Outi.
Affiliation
  • Kostjukovits S; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Folkhälsan Research Center, Helsinki, Finland; Department of Pediatrics, Malmi District Hospital, Pietarsaari, Finland.
  • Klemetti P; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Valta H; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Martelius T; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Adult Immunodeficiency Unit, Inflammation Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Notarangelo LD; Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Seppänen M; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Adult Immunodeficiency Unit, Inflammation Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Taskinen M; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Mäkitie O; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Folkhälsan Research Center, Helsinki, Finland; Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Electronic address: outi.maki
J Allergy Clin Immunol ; 140(2): 612-614.e5, 2017 08.
Article in En | MEDLINE | ID: mdl-28284971

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Phenotype / Hair / Hirschsprung Disease / Immunity / Immunologic Deficiency Syndromes Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Adult / Child / Humans Country/Region as subject: Europa Language: En Journal: J Allergy Clin Immunol Year: 2017 Document type: Article Affiliation country:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Phenotype / Hair / Hirschsprung Disease / Immunity / Immunologic Deficiency Syndromes Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Adult / Child / Humans Country/Region as subject: Europa Language: En Journal: J Allergy Clin Immunol Year: 2017 Document type: Article Affiliation country: