Literature DB >> 2766565

Holt-Oram syndrome associated with the hypoplastic left heart syndrome.

T A Glauser1, E Zackai, P Weinberg, R Clancy.   

Abstract

We present the first case of Holt-Oram syndrome associated with the lethal congenital heart defect of hypoplastic left heart syndrome. The possible pathophysiological link is explored and the need for careful genetic and cardiologic evaluation in these patients is reiterated.

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Mesh：

Year:  1989        PMID： 2766565     DOI： 10.1111/j.1399-0004.1989.tb03369.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  4 in total

Review 1.  The pathogenesis of atrial and atrioventricular septal defects with special emphasis on the role of the dorsal mesenchymal protrusion.

Authors:  Laura E Briggs; Jayant Kakarla; Andy Wessels
Journal:  Differentiation       Date:  2012-06-17       Impact factor: 3.880

Review 2.  Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.

Authors:  Terence Prendiville; Patrick Y Jay; William T Pu
Journal:  Cold Spring Harb Perspect Med       Date:  2014-10-01       Impact factor: 6.915

Review 3.  Hypoplastic left heart syndrome.

Authors:  Jean Anne Connor; Ravi Thiagarajan
Journal:  Orphanet J Rare Dis       Date:  2007-05-11       Impact factor: 4.123

4.  Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report.

Authors:  Usang E Usang; Thomas U Agan; Akan W Inyang; John-Daniel C Emehute; Itam H Itam
Journal:  J Med Case Rep       Date:  2016-08-05
  4 in total

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