A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders. [electronic resource]
Producer: 20210604Description: 908-914 p. digitalISSN:- 1399-0004
- Abnormalities, Multiple -- genetics
- Adolescent
- Arthrogryposis -- genetics
- Child
- Child, Preschool
- Databases, Genetic
- Exome -- genetics
- Female
- Genetic Heterogeneity
- Genetic Predisposition to Disease
- High-Throughput Nucleotide Sequencing
- Humans
- Infant
- Male
- Malignant Hyperthermia -- genetics
- Mutation
- Phenotype
- Skin Abnormalities -- genetics
- Tropomyosin -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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