CCDC47 Gene And Trichohepatoneurodevelopmental Syndrome: Report Of The Fifth And Sixth Cases From Saudi Arabia
August 2024
in “
American Journal of Medical Genetics Part A
”
Studysummary In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
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