Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy
Article in Molecular Syndromology (July 2021)
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Article in Molecular Genetics and Metabolism (April 2021)
eP142 Barth syndrome caused by a novel TAZ deletion through an alu element-mediated mechanism: a case report
Article in Molecular Genetics and Metabolism (April 2021)