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MURCS association with additional congenital anomalies.

作者信息

Greene R A, Bloch M J, Huff D S, Iozzo R V

出版信息

Hum Pathol. 1986 Jan;17(1):88-91. doi: 10.1016/s0046-8177(86)80160-5.

DOI:10.1016/s0046-8177(86)80160-5
PMID:3510965
Abstract

The postmortem findings in a patient with the MURCS association (müllerian duct aplasia/hypoplasia, renal agenesis or ectopy, and cervicothoracic somite dysplasia) are reported. This is the first autopsy study since the syndrome was recognized. The autopsy revealed abnormalities of the venous, pulmonary, and central nervous systems that had not been reported previously in patients with this syndrome. A review of the literature suggested that although the MURCS association usually occurs sporadically, as in this case, a familial association is occasionally present. In some cases the MURCS association may be a genetically determined pleiotropic condition.

摘要

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引用本文的文献

1
Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association).
Wien Klin Wochenschr. 2008;120(13-14):435-9. doi: 10.1007/s00508-008-0995-4.
2
MURCS association: case report and review.苗勒管发育不全综合征(MURCS)关联征:病例报告及文献综述
J Med Genet. 1996 Jul;33(7):618-20. doi: 10.1136/jmg.33.7.618.
3
MURCS in a male?男性中的苗勒氏管发育不全、肾脏及颈椎综合征(MURCS)?
J Med Genet. 1995 Apr;32(4):314-5. doi: 10.1136/jmg.32.4.314.