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spondyloepimetaphyseal dysplasia (88) 88
humans (72) 72
female (51) 51
genetics & heredity (43) 43
index medicus (43) 43
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osteochondrodysplasias - genetics (39) 39
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animals (14) 14
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joint laxity (14) 14
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collagen type ii - genetics (11) 11
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spondyloepiphyseal dysplasia (10) 10
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sponastrime dysplasia (6) 6
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joint dislocations - genetics (5) 5
joint instability - diagnostic imaging (5) 5
joint instability - genetics (5) 5
multiple epiphyseal dysplasia (5) 5
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Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2934 - 2935
Journal Article
Clinical Genetics, ISSN 0009-9163, 03/2018, Volume 93, Issue 3, pp. 671 - 674
Journal Article
Clinical Genetics, ISSN 0009-9163, 01/2017, Volume 91, Issue 1, pp. 30 - 37
Journal Article
Journal Article
Molecular Syndromology, ISSN 1661-8769, 11/2017, Volume 8, Issue 6, pp. 303 - 307
Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is a rare entity with a recessive inheritance. In this report, we describe 3 affected... 
Short Report | B3GALT6 | Skeletal dysplasia | Spondyloepimetaphyseal dysplasia | Joint laxity
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2013, Volume 161, Issue 6, pp. 1300 - 1308
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2011, Volume 89, Issue 6, pp. 767 - 772
Journal Article