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Showing results 1 to 4 of 4

1
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

2
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

3
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

Chang, Hae Ryung; Cho, Sung Yoon; Lee, Jae Hoon; Lee, Eunkyung; Seo, Jieun; Lee, Hye Ran; Cavalcanti, Denise P.; et al, AMERICAN JOURNAL OF HUMAN GENETICS, v.104, no.3, pp.439 - 453, 2019-03

4
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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