Journal article
Truncus arteriosus and other lethal internal anomalies in Goltz syndrome
American journal of medical genetics, v 90(1)
03 Jan 2000
PMID: 10602117
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
An infant girl of 36 weeks gestational age was found to have cardiovascular and other lethal internal anomalies in addition to characteristic external abnormalities of focal dermal hypoplasia (Goltz syndrome). The internal anomalies included truncus arteriosus type II with truncal origin of hypoplastic pulmonary arteries, cardiac ventricular septal defect, severe hypoplasia of lungs and pulmonary veins, massive diaphragmatic hernia, and absence of the right kidney. Such a combination of severe anomalies has not been reported previously in Goltz syndrome, Am. J. Med. Genet. 90:45-48, 2000, (C) 2000 Wiley-Liss, Inc.
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Details
- Title
- Truncus arteriosus and other lethal internal anomalies in Goltz syndrome
- Creators
- X Y HanS S WuD H ConwayB R PawelH H PunnettR A MartinJ P de Chadarevian
- Publication Details
- American journal of medical genetics, v 90(1)
- Publisher
- Wiley
- Number of pages
- 4
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Web of Science ID
- WOS:000084276700009
- Scopus ID
- 2-s2.0-0033989875
- Other Identifier
- 991019168294004721
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- Web of Science research areas
- Genetics & Heredity