First Copy Number Variant in Trans with Single Nucleotide Variant in CCN6 Causing Progressive Pseudorheumatoid Dysplasia Revealed by Genome Sequencing and Deep Phenotyping in Monozygotic Twins.
American Journal of Medical Genetics Part A（2024）
Key words
CCN6,copy number variant,deep phenotyping,genome sequencing,progressive pseudorheumatoid dysplasia,twin
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