[Congenital aplasia of the abdominal wall. A familial case]. - Suppr | 超能文献

[Congenital aplasia of the abdominal wall. A familial case].

作者信息

Grenet P, Le Calvé G, Badoual J, Gallet J P, Babinet J M

出版信息

Ann Pediatr (Paris). 1972 Jun-Jul;19(6):523-8.

Abstract

摘要

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[Congenital aplasia of the abdominal wall. A familial case].

Ann Pediatr (Paris). 1972 Jun-Jul;19(6):523-8.

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9

'Prune belly' syndrome.“梅干腹”综合征

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引用本文的文献

1

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.男性存活的梅干腹综合征可能是由 X 连锁细丝蛋白 A 基因的杂合错义突变引起的。

BMC Med Genet. 2020 Feb 21;21(1):38. doi: 10.1186/s12881-020-0973-x.

2

Genetic basis of prune belly syndrome: screening for HNF1β gene.Prune belly 综合征的遗传学基础：HNF1β 基因筛查。

J Urol. 2012 Jan;187(1):272-8. doi: 10.1016/j.juro.2011.09.036. Epub 2011 Nov 23.

3

The prune belly anomaly: heterogeneity and superficial X-linkage mimicry.梅干腹异常：异质性与表面X连锁模仿

J Med Genet. 1977 Aug;14(4):266-70. doi: 10.1136/jmg.14.4.266.