Diagnosis of Chediak Higashi disease in a 67‐year old woman-Reference-Cited by-同舟云学术

Diagnosis of Chediak Higashi disease in a 67‐year old woman

Published:2020-09-29 Issue:12 Volume:182 Page:3007-3013
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Yarnell David S.¹,Roney Joseph C.²,Teixeira Cláudia³⁴⁵,Freitas Maria I.⁶,Cipriano Ana⁷,Leuschner Pedro⁸,Krzewski Konrad⁹,Stephen Joshi²,Dorward Heidi²,Gahl William A.¹²,Gochuico Bernadette R.²^ORCID,Toro Camilo¹,Malicdan May C.¹²¹⁰^ORCID,Introne Wendy J.²¹⁰

Affiliation:

1. NIH Undiagnosed Diseases Program Common Fund, Office of the Director, NIH Bethesda Maryland USA

2. Section of the Human Biochemical Genetics Medical Genetics Branch, NHGRI, National Institutes of Health Bethesda Maryland USA

3. Department of Clinical Pathology Centro Hospitalar Universitário de S. João Porto Portugal

4. Faculty of Medicine University of Porto Porto Portugal

5. UCIBIO‐REQUIMTE, University of Porto Porto Portugal

6. Laboratorial Hematology Unit, Department of Pathology Centro Hospitalar Universitário do Porto Porto Portugal

7. Infectious Diseases Unit, Department of Medicine Centro Hospitalar Universitário do Porto Porto Portugal

8. Internal Medicine Unit, Department of Medicine Centro Hospitalar Universitário do Porto Porto Portugal

9. Receptor Cell Biology Section National Institute of Allergy and Infectious Diseases, National Institutes of Health Bethesda Maryland USA

10. Office of the Clinical Director NHGRI, National Institutes of Health Bethesda Maryland USA

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61886

Reference11 articles.

1. An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome

2. Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells

3. Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics

4. Clinical, Molecular, and Cell Biological Aspects of Chediak–Higashi Syndrome

5. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome

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1. Allergic rhinitis phenotypes with distinct transcriptome profiles in children: A birth cohort;Journal of Allergy and Clinical Immunology;2024-05

2. Spectrum ofLYSTmutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature;Journal of Medical Genetics;2023-10-03

3. Chediak-Higashi syndrome;Current Opinion in Hematology;2023-04-25

4. cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome;Frontiers in Genetics;2023-03-08