A splice site mutation confirms the role ofLPIN2 in Majeed syndrome-Reference-Cited by-同舟云学术

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A splice site mutation confirms the role ofLPIN2 in Majeed syndrome

Published:2007 Issue:3 Volume:56 Page:960-964
ISSN:0004-3591
Container-title:Arthritis & Rheumatism
language:en
Short-container-title:Arthritis Rheum

Author:

Al-Mosawi Zakiya S.,Al-Saad Khulood K.,Ijadi-Maghsoodi Roya,El-Shanti Hatem I.,Ferguson Polly J.

Publisher

Wiley

Subject

Pharmacology (medical),Immunology,Rheumatology,Immunology and Allergy

Reference17 articles.

1. Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings

2. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)

3. The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review

4. On mice and men: An autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia

5. Chronic non-bacterial osteomyelitis in children

Cited by 100 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. Family aggregation and prevalence of other autoimmune diseases in SAPHO syndrome;Heliyon;2023-11

2. Two siblings with Majeed syndrome and neutropenia;Archives of Rheumatology;2022-09-20

3. Cutaneous signs and mechanisms of inflammasomopathies;Annals of the Rheumatic Diseases;2022-01-17

4. Next Generation Sequencing Based Multiplex Long-Range PCR for Routine Genotyping of Autoinflammatory Disorders;Frontiers in Immunology;2021-06-09

5. Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature;The Journal of Rheumatology;2021-05-15

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