The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported-Reference-Cited by-同舟云学术

The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported

Published:2019-01 Issue:1 Volume:28 Page:26-29
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Fukuhara Yasuyuki,Cho Sung Y.,Miyazaki Osamu,Hattori Atsushi,Seo Joo-Hyun,Mashima Ryuichi,Kosuga Motomichi,Fukami Maki,Jin Dong-Kyu,Okuyama Torayuki,Nishimura Gen

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference18 articles.

1. The different roles of aggrecan interaction domains;Aspberg;J Histochem Cytochem,2012

2. The C-type lectin domains of lecticans, a family of aggregating chondroitin sulfate proteoglycans, bind tenascin-R by protein-protein interactions independent of carbohydrate moiety;Aspberg;Proc Natl Acad Sci USA,1997

3. Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN;Cavanagh;Mamm Genome,2007

4. BGN mutations in X-linked spondyloepimetaphyseal dysplasia;Cho;Am J Hum Genet,2016

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

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4. Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13;npj Genomic Medicine;2023-11-22

5. Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan;Scientific Reports;2022-03-25