A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case-Reference-Cited by-同舟云学术

A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case

Published:2021-05-14 Issue:8 Volume:185 Page:2477-2481
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Närhi Anu¹,Fernandes Andrea²³⁴,Toiviainen‐Salo Sanna⁵,Harris Jessica⁶,McInerney‐Leo Aideen⁷^ORCID,Lazarus Syndia²⁴⁸^ORCID,Avela Kristiina¹,Duncan Emma L.⁹

Affiliation:

1. Department of Clinical Genetics Helsinki University Hospital Helenski Finland

2. Department of Endocrinology and Diabetes Royal Brisbane and Women's Hospital Herston Australia

3. Faculty of Medicine University of Queensland, Translational Research Institute Woolloongabba Australia

4. Faculty of Medicine Herston, University of Queensland Herston Australia

5. Department of Radiology, New Children's Hospital Helsinki University Hospital Helenski Finland

6. University of Queensland Diamantina Institute University of Queensland, Translational Research Institute, Princess Alexandra Hospital Woolloongabba Australia

7. Dermatology Research Centre University of Queensland Diamantina Institute, University of Queensland Woolloongabba Australia

8. Department of Internal Medicine (Endocrinology) The Prince Charles Hospital Chermside Australia

9. Department of Twin Research and Genetic Epidemiology School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London London UK

Funder

National Health and Medical Research Council

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62257

Reference22 articles.

1. A method and server for predicting damaging missense mutations

2. A genomic view of mosaicism and human disease

3. A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

4. Detecting Somatic Mutations in Normal Cells

5. An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome

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

2. Podocyte-specific Transcription Factors: Could MafB Become a Therapeutic Target for Kidney Disease?;Internal Medicine;2023-01-01

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

4. Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review;Journal of Clinical Medicine;2022-07-29