Truncated Variants in FAM20A and WDR72 Genes Underlie Autosomal Recessive Amelogenesis Imperfecta in Four Pakistani Families.

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Title: Truncated Variants in FAM20A and WDR72 Genes Underlie Autosomal Recessive Amelogenesis Imperfecta in Four Pakistani Families.
Authors: Ullah S; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan., Khan SA; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan.; Department of Computer Science and Bioinformatics, Khushal Khan Khatak University, Karak, Pakistan., Jan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan., Din SU; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan., Muhammad N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan., Rehman ZU; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan., Jan A; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan., Tariq M; Department of Medical Laboratory Technology, University College of Duba, University of Tabuk, Tabuk, Kingdom of Saudi Arabia., Muhammad N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan., Ghani A; Department of Chemistry, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan., Wasif N; Institute of Human Genetics, Ulm University and Ulm University Medical Center, 89081, Ulm, Germany. naveedwasif@gmail.com.; Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany. naveedwasif@gmail.com., Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan. saad@kust.edu.pk.
Source: Biochemical genetics [Biochem Genet] 2026 Feb; Vol. 64 (1), pp. 1311-1323. Date of Electronic Publication: 2025 Mar 19.
Publication Type: Journal Article
Journal Info: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0126611 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4927 (Electronic) Linking ISSN: 00062928 NLM ISO Abbreviation: Biochem Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1573-4927
DOI:10.1007/s10528-025-11087-2