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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 |
Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type Min, Byung-Joo; Kim, Namshin; Chung, Taesu; Kim, Ok-Hwa; Nishimura, Gen; Chung, Chin Youb; Song, Hae Ryong; et al, AMERICAN JOURNAL OF HUMAN GENETICS, v.89, no.6, pp.760 - 766, 2011-12 |
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