A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia-Reference-Cited by-同舟云学术

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A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia

Published:2018-10-25 Issue: Volume:9 Page:
ISSN:1664-3224
Container-title:Frontiers in Immunology
language:
Short-container-title:Front. Immunol.

Author:

Vakkilainen Svetlana,Mäkitie Riikka,Klemetti Paula,Valta Helena,Taskinen Mervi,Husebye Eystein Sverre,Mäkitie Outi

Funder

Sigrid Juséliuksen Säätiö

Academy of Finland

Samfundet Folkhälsan

Barncancerfonden

Lastentautien Tutkimussäätiö

Jalmari ja Rauha Ahokkaan Säätiö

Norges Forskningsråd

Publisher

Frontiers Media SA

Subject

Immunology,Immunology and Allergy

Reference34 articles.

1. Evolutionary comparison provides evidence for pathogenicity of RMRP mutations;Bonafé;PLoS Genet.,2005

2. Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia;Bacchetta;Pediatr Nephrol.,2009

3. Immunologic and clinical features of 25 Amish patients with RMRP 70 A–>G cartilage hair hypoplasia;Rider;Clin Immunol.,2009

4. Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation;Bordon;Blood,2010

5. High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia;Kostjukovits;J Allergy Clin Immunol.,2017

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients;Scientific Reports;2024-06-11

2. Cartilage-hair hypoplasia–anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report;Medicine;2024-05-24

3. Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients;Orphanet Journal of Rare Diseases;2024-04-18

4. Oral findings in patients with cartilage-hair hypoplasia - cross-sectional observational study;Orphanet Journal of Rare Diseases;2023-06-12

5. Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants;Bone;2023-02

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