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Mutation of the Type X Collagen Gene (COL10A1) Causes Spondylometaphyseal Dysplasia

✍ Scribed by Shiro Ikegawa; Gen Nishimura; Toshiro Nagai; Tomonobu Hasegawa; Hirofumi Ohashi; Yusuke Nakamura


Book ID
117852643
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
143 KB
Volume
63
Category
Article
ISSN
0002-9297

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We report on a patient with a skeletal dysplasia characterized by short stature, spondylo-epiphyseal involvement, and brachydactyly E-like changes. This condition has been described as spondyloperiph-era1 dysplasia and the few published cases suggest autosomal dominant inheritance with considerable