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A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia
Koichi Maeda, Yoshinari Miyamoto, Hideaki Sawai, Lawrence P. Karniski, Eiji Nakashima, Gen Nishimura, Shiro IkegawaVolume:
140A
Year:
2006
Language:
english
Pages:
5
DOI:
10.1002/ajmg.a.31225
File:
PDF, 183 KB
english, 2006