The thoracoabdominal syndrome (TAS): A new X-linked dominant disorder

R. Carmi; A. Barbash; A. J. Mares

doi:10.1002/ajmg.1320360122

The thoracoabdominal syndrome (TAS): A new X-linked dominant disorder

R. Carmi, A. Barbash, A. J. Mares

Ben-Gurion University of the Negev

Research output: Contribution to journal › Article › peer-review

48 Scopus citations

Abstract

We report on a family with a previously undescribed malformation syndrome. The syndrome is composed of diaphragmatic and ventral herniae, hypoplastic lung, and associated cardiac anomalies. The relative number of affected males and females and appreciably severer manifestations in males suggest an X-linked dominant inheritance.

Original language	English
Pages (from-to)	109-114
Number of pages	6
Journal	American Journal of Medical Genetics
Volume	36
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.1320360122
State	Published - 1 Jan 1990

Keywords

abdominal wall defect
Cantrell pentalogy
diaphragmatic hernia
X-linked dominant

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.1320360122

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title = "The thoracoabdominal syndrome (TAS): A new X-linked dominant disorder",

abstract = "We report on a family with a previously undescribed malformation syndrome. The syndrome is composed of diaphragmatic and ventral herniae, hypoplastic lung, and associated cardiac anomalies. The relative number of affected males and females and appreciably severer manifestations in males suggest an X-linked dominant inheritance.",

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The thoracoabdominal syndrome (TAS): A new X-linked dominant disorder

Abstract

Keywords

ASJC Scopus subject areas

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