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Article

Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome.

Circulation - 22 Jun 2004

Miller Todd E, Estrella Elicia, Myerburg Robert J, Garcia de Viera Jocelyn, Moreno Niberto, Rusconi Paolo, Ahearn Mary Ellen, Baumbach Lisa, Kurlansky Paul, Wolff Grace, Bishopric Nanette H

Abstract excerpt

BACKGROUND: The importance of germ-line mosaicism in genetic disease is probably underestimated, even though recent studies indicate that it may be involved in 10% to 20% of apparently de novo cases of several dominantly inherited genetic diseases. METHODS AND RESULTS: We describe here a case of repeated germ-line transmission of a severe form of long-QT syndrome (LQTS) from an asymptomatic mother with mosaicism...

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Identifiers

PMID: 15184283
DOI: 10.1161/01.CIR.0000130666.81539.9E

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