Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M)-Reference-Cited by-同舟云学术

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Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M)

Published:2020-06 Issue: Volume:12 Page:100245
ISSN:2352-1872
Container-title:Bone Reports
language:en
Short-container-title:Bone Reports

Author:

Das Liza^ORCID,Dhiman Vandana,Van Hul Wim,Bhansali Anil,Gogate Yashpal,Steenackers Ellen,Mortier Geert,Bhadada Sanjay Kumar

Publisher

Elsevier BV

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference14 articles.

1. Characterization of human Matrilin-3 (MATN3);Belluoccio;Genomics,1998

2. Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD;Borochowitz;J. Med. Genet.,2004

3. Mutations in the region encoding the von Willebrand factor A domains of matrilin-3 are associated with multiple epiphyseal dysplasia;Chapman;Nat. Genet.,2001

4. Spondylo-epi-metaphyseal dysplasia;Cormier-Daire;Best Pract. Res. Clin. Rheumatol.,2008

5. Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3;Cotterill;Hum. Mutat.,2005

Cited by 2 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. The Matrilin-3 T298M mutation predisposes for post-traumatic osteoarthritis in a knock-in mouse model;Osteoarthritis and Cartilage;2021-01

2. Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues;Developmental Dynamics;2020-07-18

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