Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass-Reference-Cited by-同舟云学术

Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass

Published:2022-07-05 Issue:8 Volume:6 Page:
ISSN:2473-4039
Container-title:JBMR Plus
language:en
Short-container-title:JBMR Plus

Author:

Muurinen Mari¹²³,Taylan Fulya⁴⁵^ORCID,Tournis Symeon⁶^ORCID,Eisfeldt Jesper⁴⁵,Balanika Alexia⁷,Vastardis Heleni⁸,Ala‐Mello Sirpa⁹,Mäkitie Outi¹²³⁴⁵^ORCID,Costantini Alice⁴^ORCID

Affiliation:

1. Research Program for Clinical and Molecular Metabolism University of Helsinki Helsinki Finland

2. Children's Hospital University of Helsinki and Helsinki University Hospital Helsinki Finland

3. Folkhälsan Research Center Helsinki Finland

4. Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet Stockholm

5. Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden

6. Laboratory for the Research of Musculoskeletal System "Th. Garofalidis," Medical School National and Kapodistrian University of Athens, KAT Hospital Athens Greece

7. Department of Computed Tomography Asklepeion Voulas Hospital Athens Greece

8. Department of Orthodontics, School of Dentistry National and Kapodistrian University of Athens Athens Greece

9. Department of Clinical Genetics Helsinki University Hospital Helsinki Finland

Funder

Konung Gustaf V:s och Drottning Victorias Frimurarestiftelse

Sigrid Juséliuksen Säätiö

Stockholms Läns Landsting

National and Kapodistrian University of Athens

Department of Genetics, University of Alabama at Birmingham

ASCRS Research Foundation

Academy of Finland

Novo Nordisk Fonden

Vetenskapsrådet

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jbm4.10660

Reference29 articles.

1. A genomic view of mosaicism and human disease

2. Disorders caused by genetic mosaicism;Moog U;Dtsch Arztebl Int,2020

3. Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen;Byers PH;Am J Hum Genet,1988

4. A mild form of Stickler syndrome type II caused by mosaicism of COL11A1

5. Somatic mosaicism for a lethalTRPV4mutation results in non-lethal metatropic dysplasia

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