Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).-Reference-Cited by-同舟云学术

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).

Published:1994-02-01 Issue:2 Volume:31 Page:136-140
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Beighton P

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference8 articles.

1. Mendelian inheritance in man;McKusick, V.A.,1992

2. International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone;Spranger, J.;Eur J Pediatr,1992

3. Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis;Beighton, P.; Kozlowski, K.;Skeletal Radiol,1980

4. Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis;Beighton, P.; Kozlowski, K.; Gericke, G.; Wallis, G.; Grobler, L.;S Afr Med J,1983

5. Radiographic features of spondylo-epi-metaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases;Kozlowski, K.; Beighton, P.;ROFO,1984

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. Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6;Genes;2019-10-12

2. Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type;American Journal of Medical Genetics Part A;2018-10-04

3. Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review;Journal of Neuroimaging;2016-12-21

4. Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder;South African Medical Journal;2016-05-25

5. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene;European Journal of Human Genetics;2015-12-16