Familial cavernous malformations of the central nervous system and retina
抄録
<jats:title>Abstract</jats:title><jats:p>We studied a family in which 4 persons from three generations had multiple cavernous malformations (“angiomas”) of the central nervous system (CNS) and/or retina and found accounts in the literature of sixteen other families with this condition. In these families with familial cavernous malformation of the CNS and retina, 92% of pathologically documented vascular malformations were cavernous; 50% of those subjects affected had multiple CNS and/or retinal vascular malformations and 68% (excluding probands) were symptomatic. Cutaneous vascular lesions were an inconsistant manifestation. Autosomal dominant inheritance with high penetrance was confirmed.</jats:p>
収録刊行物
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- Annals of Neurology
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Annals of Neurology 21 (6), 578-583, 1987-06
Wiley
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詳細情報 詳細情報について
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- CRID
- 1360011143947412480
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- NII論文ID
- 30008838932
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- ISSN
- 15318249
- 03645134
- http://id.crossref.org/issn/03645134
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- データソース種別
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- Crossref
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