Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral–facial–digital syndrome with short stature and brachymesophalangia
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G. Pazour | J. Rivière | J. Thevenon | S. Phadke | L. Faivre | C. Philippe | C. Thauvin-Robinet | B. Franco | Y. Duffourd | V. Cormier-Daire | T. Attié-Bitach | J. St‐Onge | V. Carmignac | A. Bruel | A. Saunier | T. Eguether | L. Duplomb | M. Avila | A. Masurel‐Paulet | Magali Avila | Aline Saunier