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...

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Detalles Bibliográficos
Autores principales: Najjar, Dorra, Chikhaoui, Asma, Zarrouk, Sinda, Azouz, Saifeddine, Kamoun, Wafa, Nassib, Nabil, Bouchoucha, Sami, Yacoub-Youssef, Houda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601381/
https://www.ncbi.nlm.nih.gov/pubmed/36292632
http://dx.doi.org/10.3390/genes13101748

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