An unusual familial spondyloepiphyseal dysplasia: "spondyloperipheral dysplasia".
作者信息
Kelly T E, Lichtenstein J R, Dorst J P
出版信息
Birth Defects Orig Artic Ser. 1977;13(3B):149-65.
PMID:407956
Abstract
摘要
相似文献
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An unusual familial spondyloepiphyseal dysplasia: "spondyloperipheral dysplasia".一种罕见的家族性脊柱骨骺发育不良：“脊柱周围发育不良”
Birth Defects Orig Artic Ser. 1977;13(3B):149-65.
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引用本文的文献
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Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.COL2A1 中 C 端前肽突变导致的脊椎-周围发育不良的母婴患者的产前表现与处理：病例报告。
Orphanet J Rare Dis. 2011 Feb 28;6:7. doi: 10.1186/1750-1172-6-7.
2
Spondyloepiphyseal dysplasia.脊椎骨骺发育不良
J Med Genet. 1983 Apr;20(2):117-21.
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