X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred.

Author:

MacKenzie J J,Fitzpatrick J,Babyn P,Ferrero G B,Ballabio A,Billingsley G,Bulman D E,Strasberg P,Ray P N,Costa T

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference33 articles.

1. The prevalence of skeletal dysplasias: an estimate of their minimum frequency and the number of patients requiring orthopaedic care;Wynne-Davies, R.; Gormley, J.;J Bone Joint Surg,1985

2. X-linked spondyloepiphyseal dysplasia tarda (SDT);Bannerman, R.M.;Birth Defects,1969

3. X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data. 3rMed Genet;Bannerman, R.M.; Ingall, G.B.; Mohn, J.F.,1971

4. Spondyloepiphyseal dysplasia tarda: hereditary chondrodysplasia with characteristic vertebral configuration in the adult;LO, Jr, Langer;Radiology,1964

5. An unusual form of familial osteodystrophy;Barber, H.S.;Lancet,1960

Cited by 31 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. Interpretation of the TRAPPC2 Mutation Found in a Child with Short Stature Using a Functional Study: A Case Report;Laboratory Medicine Online;2024-01-01

2. Imaging of Congenital Skeletal Disorders;Seminars in Musculoskeletal Radiology;2021-02

3. Spondyloepiphyseal Dysplasia;Atlas of Genetic Diagnosis and Counseling;2017

4. Spondyloepiphyseal Dysplasia;Atlas of Genetic Diagnosis and Counseling;2015

5. Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias;World Journal of Radiology;2014

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3