Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes : spondyloepiphyseal dysplasia, stanescu type

Gen Nishimura,Yukihiro Saitoh,Shigeharu Okuzumi,Kiyoshi Imaizumi,Kiyoshi Hayasaka,Motoya Hashimoto

Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes : spondyloepiphyseal dysplasia, stanescu type

1998

Gen Nishimura
Yukihiro Saitoh
Shigeharu Okuzumi
Kiyoshi Imaizumi
Kiyoshi Hayasaka
Motoya Hashimoto

Objective. To clarify the phenotype in a bone dysplasia termed “spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes” by Stanescu et al.

Keywords:

Pathology
Cartilage
Intracytoplasmic inclusion body
Spondyloepiphyseal dysplasia
Dysplasia
Chondrocyte
Osteochondrodysplasia
Glycoprotein
Dominance (genetics)
Medicine
autosomal dominant trait

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