A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

(2011) Moniek G.P.J. Cox et al.   CIRCULATION

Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy–Overlap Syndromes

(2011) Matthew Taylor et al.   CIRCULATION

Genotype-phenotype analysis of the branchio-oculo-facial syndrome

(2010) Jeff M. Milunsky et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

(2010) Frank I. Marcus et al.   CIRCULATION

Comprehensive Desmosome Mutation Analysis in North Americans With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

(2009) A. Dénise den Haan et al.   Circulation-Cardiovascular Genetics

Lesser Forms of Cleft Lip Associated With the Branchio-Oculo-Facial Syndrome

(2009) Angela E. Lin et al.   JOURNAL OF CRANIOFACIAL SURGERY

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

(2009) Kimberly A Aldinger et al.   NATURE GENETICS

TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

(2008) Jeff M. Milunsky et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene

(2008) Nancy D. Merner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mechanisms of Disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy

(2008) Mark M Awad et al.   Nature clinical practice. Cardiovascular medicine