Bartsocas-Papas syndrome: three familial cases from Spain.
作者信息
Martínez-Frías M L, Frías J L, Vazquez I, Fernández J
机构信息
Estudio Colaborativo Español de Malformaciones Congenitas (ECEMC), Facultad de Medicina, Universidad Complutense de Madrid, Spain.
出版信息
Am J Med Genet. 1991 Apr 1;39(1):34-7. doi: 10.1002/ajmg.1320390109.
PMID:1867261
Abstract
We report on 3 Spanish sibs with the Bartsocas-Papas syndrome. This appears to be the seventh reported family; all but one of them are of Mediterranean origin. We propose that a generalized vascular disruption is the most likely pathogenetic mechanism for the anomalies found in this syndrome.
摘要
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