Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencing-Reference-Cited by-同舟云学术

Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencing

Published:2020-06 Issue:6 Volume:63 Page:103902
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Li Jun,Shi Lina,Lau Keith,Ma Yijiao,Jia Shilei,Gao Xiaojie

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference14 articles.

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3. The syndrome of idiopathic osteolysis. Classification, review, and case report;Hardegger;J. Bone Joint Surg. Br.,1985

4. GSK3-mediated MAF phosphorylation in multiple myeloma as a potential therapeutic target;Herath;Blood Canc. J.,2014

5. A boneless arm;Jackson;Boston Med. Surg. J.,1838

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1. A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course;American Journal of Medical Genetics Part A;2024-03-29

2. Multicentric carpotarsal osteolysis syndrome with variants of MAFB gene: a case report and literature review;Pediatric Rheumatology;2024-03-13

3. Primary Bone Diffuse Large B-cell Lymphoma (PB-DLBCL) – a distinct extranodal lymphoma of germinal center origin, with an EZB-like mutational profile and good prognosis;2023-05-15

4. An unusual manifestation in a pediatric patient with MAFB mutation: Sacroiliitis in multicentric carpotarsal osteolysis syndrome;International Journal of Rheumatic Diseases;2023-04-23

5. Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype;Current Osteoporosis Reports;2022-12-07