Combining gene mutation with expression of candidate genes to improve diagnosis of Escobar syndrome
D Najjar, A Chikhaoui, S Zarrouk, S Azouz, W Kamoun… - Genes, 2022 - mdpi.com
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 …
system and the skin. Mutations in the CHRNG and TPM2 genes are associated with this …
[PDF][PDF] Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome. Genes 2022, 13, 1748
D Najjar, A Chikhaoui, S Zarrouk, S Azouz, W Kamoun… - 2022 - academia.edu
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 …
system and the skin. Mutations in the CHRNG and TPM2 genes are associated with this …