Associated Papers
Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.
Ozturk M et al.
Molecular Biology Reports, 2024
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Burrage LC et al.
American Journal of Human Genetics, 2019
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