汤姆斯-布罗克斯综合征。一例报告及文献复习。
Townes-Brocks syndrome. Report of a case and review of the literature.
作者信息
Ferraz F G, Nunes L, Ferraz M E, Sousa J P, Santos M, Carvalho C, Maroteaux P
机构信息
Genetics Unit, HCL, Pediatric Hospital of D. Estefania, Lisbon, Portugal.
出版信息
Ann Genet. 1989;32(2):120-3.
PMID:2667456
Abstract
The authors report a new case of Townes-Brocks syndrome with cardiac defect, ossicular anomalies and dominant transmission. The intrafamilial variability of the phenotype and the difficulty of diagnosis in isolated cases are underlined.
摘要
作者报告了一例伴有心脏缺陷、听小骨异常和显性遗传的汤姆斯-布罗克斯综合征新病例。强调了该综合征在家族内的表型变异性以及孤立病例诊断的困难。
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