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Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome
Escobar syndrome is a rare, autosomal recessive disorder that affects the musculoskeletal system and the skin. Mutations in the CHRNG and TPM2 genes are associated with this pathology. In this study, we conducted a clinical and genetic investigation of five patients and also explored via in silico a...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601381/ https://www.ncbi.nlm.nih.gov/pubmed/36292632 http://dx.doi.org/10.3390/genes13101748 |