Associated Papers
Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review.
Huljev Frković S et al.
American Journal of Medical Genetics. Part A, 2022
Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature.
Turkyilmaz A et al.
Genetic Testing and Molecular Biomarkers, 2021
Tectonic gene mutations in patients with Joubert syndrome.
Huppke P et al.
European Journal of Human Genetics : Ejhg, 2015
TCTN3 mutations cause Mohr-Majewski syndrome.
Thomas S et al.
American Journal of Human Genetics, 2012
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