Article
ALK2 mutation in a patient with Down's syndrome and a congenital heart defect.
European journal of human genetics : EJHG - 1 Apr 2011
Joziasse Irene C, Smith Kelly A, Chocron Sonja, van Dinther Maarten, Guryev Victor, van de Smagt Jasper J, Cuppen Edwin, Ten Dijke Peter, Mulder Barbara Jm, Maslen Cheryl L, Reshey Benjamin, Doevendans Pieter A, Bakkers Jeroen
Abstract excerpt
Down's syndrome (DS), resulting from an additional copy of chromosome 21 (trisomy 21), is frequently associated with congenital heart defects (CHDs). Although the increased dosage of chromosome 21 sequences is likely to be part of the etiology of cardiac defects, only a proportion of DS patients...
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