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门综合征:另外三例病例报告。

DOOR syndrome: report of three additional cases.

作者信息

Félix Têmis Maria, de Menezes Karam Simone, Della Rosa Valter Augusto, Moraes Ana Maria S Machado

机构信息

Serviçio de Genética Médica, Hospital de Clinicas de Porto Alegre, Rio Grande do Sul, Brazil.

出版信息

Clin Dysmorphol. 2002 Apr;11(2):133-8. doi: 10.1097/00019605-200204000-00012.

Abstract

Three new cases of DOOR syndrome are described in unrelated Brazilian children. One of these cases also has a congential cardiac defect. None of the cases has organic acid abnormalities and they can therefore be classified as Type II.

摘要

本文描述了3例互不相关的巴西儿童患门综合征的新病例。其中1例还患有先天性心脏缺陷。所有病例均无有机酸异常,因此可归类为II型。

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