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BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia Cho, Sung Yoon; Bae, Jun-Seok; Kim, Nayoung K. D.; Forzano, Francesca; Girisha, Katta Mohan; Baldo, Chiara; Faravelli, Francesca; et al, AMERICAN JOURNAL OF HUMAN GENETICS, v.98, no.6, pp.1243 - 1248, 2016-06 |
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis Kaname, Tadashi; Ki, Chang-Seok; Niikawa, Norio; Baillie, George S.; Day, JP; Yamamura, Ken-ichi; Ohta, Tohru; et al, CELLULAR SIGNALLING, v.26, no.11, pp.2446 - 2459, 2014-11 |
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