Developmental genomics of congenital limb malformations: further indication of allelic series in association with gene dosage effects that contribute to the variability of phenotypes Ruizhi Duan , Hadia Hijazi , Elif Yilmaz Gulec , Hatice Koçak Eker , Silvia R. Costa , Yavuz Sahin , Zeynep Ocak , Sedat Isikay , Ozge Ozalp , Sevcan Bozdogan , Huseyin Aslan , Nursel Elcioglu , Débora R. Bertola , Alper Gezdirici , Haowei Du , Jawid M. Fatih , Christopher M. Grochowski , Gulsen Akay , Baylor-Hopkins Center for Mendelian Genomics, Shalini N. Jhangiani , Ender Karaca , Shen Gu , Zeynep Coban-Akdemir , Jennifer E. Posey , Yavuz Bayram , V. Reid Sutton , Claudia M.B. Carvalho , Davut Pehlivan , Richard A. Gibbs , James R. Lupski Human Genetics and Genomics Advances（2022）
关键词
limb malformations, developmental genomics, gene, allelic series
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