Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population-Reference-Cited by-同舟云学术

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Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population

Published:2006 Issue:12 Volume:140A Page:1280-1284
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Itoh Taichi,Shirahama Shuya,Nakashima Eiji,Maeda Koichi,Haga Nobuhiko,Kitoh Hiroshi,Kosaki Rika,Ohashi Hirofumi,Nishimura Gen,Ikegawa Shiro

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations

2. Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis

3. Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia

4. Missense mutations in the strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

5. A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations

Cited by 14 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. Multiple Epiphyseal Dysplasia With Knee Joint Locking Symptoms Caused by Intra-articular Loose Bodies;Cureus;2024-04-24

2. The present and future of whole-exome sequencing in studying and treating human reproductive disorders;Journal of Genetics and Genomics;2018-10

3. Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: Molecular Genetics, Disease Mechanisms and Therapeutic Targets;Cartilage;2017

4. Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population;Genetics and Molecular Research;2016

5. Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report;BMC Musculoskeletal Disorders;2014-11-08

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