A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders

Keyphrases

• Arthrogryposis 20%
• Autosomal Dominant 20%
• Autosomal Recessive 40%
• Clinical Exome 20%
• Congenital Fiber Type Disproportion 20%
• Developmental Defects 20%
• Disorders Diagnosis 20%
• Distal Arthrogryposis 20%
• Escobar Syndrome 20%
• Gene Panel 20%
• Genetic Causes 20%
• Genetic Diagnosis 20%
• Genetic Heterogeneity 100%
• Genome-wide Sequencing 20%
• Genomic Technologies 20%
• Heterogeneous Groups 20%
• Illumina 20%
• Joint Contracture 20%
• Metagenomic Next-generation Sequencing (mNGS) 20%
• Missense Substitution 20%
• Multiple Joints 20%
• Multiple Pterygium Syndrome 100%
• Nemaline Myopathy 40%
• Phenotypic Heterogeneity 100%
• Pterygium 20%
• Recurrent Pathogenic Variant 100%
• Related Conditions 20%
• Related Disorders 100%
• Sequence Method 20%
• TPM2 100%
• Trismus 20%
• Tropomyosin 20%
• Unrelated Individuals 20%
• Variable Features 20%
• X-linked Dominant 20%

Biochemistry, Genetics and Molecular Biology

• Autosomal Dominant Inheritance 33%
• Autosomal Recessive Inheritance 66%
• Exome 33%
• Genetic Heterogeneity 100%
• Genetics 66%
• Genomics 33%
• Missense 33%
• Next Generation Sequencing 33%
• Phenotypic Heterogeneity 100%
• TPM2 100%
• Tropomyosin 33%