A new type of autosomal recessive spondyloepiphyseal dysplasia tarda
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference21 articles.
1. Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred
2. Five families with arginine519-cysteine mutation in COL2A1: Evidence for three distinct founders
3. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
4. The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda
5. Toledo type brachyolmia.
Cited by 6 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. Imaging of Congenital Skeletal Disorders;Seminars in Musculoskeletal Radiology;2021-02
2. Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family;Yonsei Medical Journal;2016
3. Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias;World Journal of Radiology;2014
4. PAPSS2mutations cause autosomal recessive brachyolmia;Journal of Medical Genetics;2012-07-11
5. A Case of Spondyloepiphyseal Dysplasia Tarda (SEDT) Misdiagnosed as Ankylosing Spondylitis;Journal of Rheumatic Diseases;2011
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