Article
Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Apr 2024
Awotoye Waheed, Mossey Peter A, Hetmanski Jacqueline B, Gowans Lord J J, Eshete Mekonen A, Adeyemo Wasiu L, Alade Azeez, Zeng Erliang, Adamson Olawale, James Olutayo, Fashina Azeez, Ogunlewe Modupe O, Naicker Thirona, Adeleke Chinyere, Busch Tamara, Li Mary, Petrin Aline, Oladayo Abimbola, Kayali Sami, Olotu Joy, Sule Veronica, Hassan Mohaned, Pape John, Aladenika Emmanuel T, Donkor Peter, Arthur Fareed K N, Obiri-Yeboah Solomon, Sabbah Daniel K, Agbenorku Pius, Ray Debashree, Plange-Rhule Gyikua, Oti Alexander Acheampong, Albokhari Daniah, Sobreira Nara, Dunnwald Martine, Beaty Terri H, Taub Margaret, Marazita Mary L, Adeyemo Adebowale A, Murray Jeffrey C, Butali Azeez
Abstract excerpt
Novel or rare damaging mutations have been implicated in the developmental pathogenesis of nonsyndromic cleft lip with or without cleft palate (nsCL ± P). Thus, we investigated the human genome for high-impact mutations that could explain the risk of nsCL ± P in our cohorts. We conducted next-generation sequencing (NGS) analysis of 130 nsCL ± P case-parent African trios to identify pathogenic variants that...
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