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Listar por autor "Eyre, David"
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Dominant-negative SOX9 mutations in campomelic dysplasia.
Csukasi, Fabiana; Duran, Ivan; Zhang, Wenjuan; Martin, Jorge H.; Barad, Maya; Bamshad, Michael; Weis, Mary Ann; Eyre, David; Krakow, Deborah; Cohn, Daniel H.[et al.] (Wiley, 2019-08-07)Campomelic dysplasia (CD) is an autosomal dominant, perinatal lethal skeletaldysplasia characterized by a small chest and short long bones with bowing of thelower extremities. CD is the result of heterozygosity for mutations ...