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Biallelic TYR and TKFC variants in Egyptian patients with OCA1 and new expanded TKFC features.

Autor: Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. ea.ashaat@nrc.sci.eg., Esmaiel NN; Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., El-Saiedi SA; Pediatric Cardiology Department, Cairo University, Cairo, Egypt., Ashaat NA; Professor of Genetics, Ain Shams University, Cairo, Egypt., Hussen DF; Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Ramadan A; Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Al Kersh MA; Orthopedic Department, Ain Shams University, Cairo, Egypt., AbdelHakim NS; Fetal Medicine Unit, Faculty of Medicine, Cairo University, Cairo, Egypt., Said I; Fetal Medicine Unit, Faculty of Medicine, Cairo University, Cairo, Egypt., Metwally AM; Community Medicine Research Department/Medical Research and Clinical Studies Institute, National Research Centre (Affiliation ID: 60014618), Cairo, Egypt. ammal_mok@yahoo.com., Fayez A; Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Publikováno v: BMC genomics [BMC Genomics] 2024 Sep 09; Vol. 25 (1), pp. 844. Date of Electronic Publication: 2024 Sep 09.