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Electron microscopy as an aid to diagnosis of disorders of the extracellular matrix: a new type of spondyloepiphyseal dysplasia.

作者信息

Byers P H, Holbrook K A, Chandler J W, Bornstein P, Hall J G

出版信息

Birth Defects Orig Artic Ser. 1978;14(6B):221-32.

PMID:310322
Abstract
摘要

相似文献

1
Electron microscopy as an aid to diagnosis of disorders of the extracellular matrix: a new type of spondyloepiphyseal dysplasia.
Birth Defects Orig Artic Ser. 1978;14(6B):221-32.
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引用本文的文献

1
Previously unreported abnormalities of dermal basement membranes and collagen fibrils in a patient with X-linked spondyloepiphyseal dysplasia tarda.一名患有迟发性X连锁脊椎骨骺发育不良的患者出现了以前未报道过的真皮基底膜和胶原纤维异常。
Postgrad Med J. 1986 Oct;62(732):943-6. doi: 10.1136/pgmj.62.732.943.
2
A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils.
Hum Genet. 1978 Jan 19;40(2):157-69. doi: 10.1007/BF00272296.