Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia-Reference-Cited by-同舟云学术

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Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia

Published:2009-07-22 Issue:12 Volume:24 Page:2449-2453
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Bacchetta Justine,Ranchin Bruno,Brunet Anne Sophie,Bouvier Raymonde,Duquesne Agnès,Edery Patrick,Fabien Nicole,Peretti Noël

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00467-009-1256-0.pdf

Reference16 articles.

1. Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG (2006) RMRP mutations in cartilage-hair hypoplasia. Am J Med Genet 140(19):2121–2130

2. Notarangelo LD, Roifman CM, Giliani S (2008) Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. Curr Opin Allergy Clin Immunol 8(6):534–539

3. Bonafe L, Dermitzakis ET, Unger S, Greenberg CR, Campos-Xavier BA, Zankl A, Ucla C, Antonarakis SE, Superti-Furga A, Reymond A (2005) Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. PLoS Genet 1(4):e47

4. Taskinen M, Ranki A, Pukkala E, Jeskanen L, Kaitila I, Makitie O (2008) Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. Am J Med Genet 146A(18):2370–2375

5. Bailly-Botuha C, Jaubert F, Taam RA, Galmiche L, Picard C, Bellon G, de Blic J (2008) Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia. J Pediatr 152(3):429–433

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3. LncRNAs and Immunity: Coding the Immune System with Noncoding Oligonucleotides;International Journal of Molecular Sciences;2021-02-09

4. The Safety and Efficacy of Live Viral Vaccines in Patients With Cartilage-Hair Hypoplasia;Frontiers in Immunology;2020-08-11

5. Congenital disorders of bone and blood;Bone;2019-02

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