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AHDC1 missense mutations in Xia-Gibbs syndrome:

Khayat, Michael M. ; Hu, Jianhong ; Jiang, Yunyun...
Human Genetics and Genomics Advances.  2 (2021)  4 - p. 100049 , 2021
Link: https://doi.org/10.1016/j.xhgg.2021.100049