<p>Clinical features and gene identification results of the probands and their first relatives.</p
<p>Demographic, Clinical, and Genetic Characteristics of the Initial Study Population.</p
Variants found in the present study and clinical characteristics of the families.</p
<p>Phenotypic and biological profiles of the patients bearing the four new allelic variants.</p
Clinical characteristics of probands who underwent genetic testing (N = 460).</p
<p>The clinical characteristics of patients included for gene expression profiling analysis.</p
<p>Clinical characteristics, genomic findings and histology data for group 1.</p
<p>Clinical features and genetic variants identified in patients with unknown diagnoses.</p
<p>Clinical characteristics of the patients included in the gene expression analysis.</p
<p>Clinical, pathologic and mutational analysis results for the families that mutations were found i...
Clinical, pathological and familial features of the patients included in this study.</p
<p>Clinical manifestations in probands from the families or sporadic affected individuals included i...
<p>Clinical parameters and the genotype of the patients involved in the study.</p
<p>Clinical characteristics, genomic findings and histology data for group 2.</p
<p>Upper panel: Filled symbols represent the affected individuals. The proband is indicated by an ar...
<p>(A) Family pedigree with corresponding ECGs. Open symbols indicate clinically normal subjects and...
<p>Demographic, Clinical, and Genetic Characteristics of the Initial Study Population.</p
Variants found in the present study and clinical characteristics of the families.</p
<p>Phenotypic and biological profiles of the patients bearing the four new allelic variants.</p
Clinical characteristics of probands who underwent genetic testing (N = 460).</p
<p>The clinical characteristics of patients included for gene expression profiling analysis.</p
<p>Clinical characteristics, genomic findings and histology data for group 1.</p
<p>Clinical features and genetic variants identified in patients with unknown diagnoses.</p
<p>Clinical characteristics of the patients included in the gene expression analysis.</p
<p>Clinical, pathologic and mutational analysis results for the families that mutations were found i...
Clinical, pathological and familial features of the patients included in this study.</p
<p>Clinical manifestations in probands from the families or sporadic affected individuals included i...
<p>Clinical parameters and the genotype of the patients involved in the study.</p
<p>Clinical characteristics, genomic findings and histology data for group 2.</p
<p>Upper panel: Filled symbols represent the affected individuals. The proband is indicated by an ar...
<p>(A) Family pedigree with corresponding ECGs. Open symbols indicate clinically normal subjects and...
<p>Demographic, Clinical, and Genetic Characteristics of the Initial Study Population.</p
Variants found in the present study and clinical characteristics of the families.</p
<p>Phenotypic and biological profiles of the patients bearing the four new allelic variants.</p
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