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A compound heterozygote of novel and recurrentDTDSTmutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia
Atsushi Miyake, Gen Nishimura, Toru Futami, Hirofumi Ohashi, Kazuhiro Chiba, Yoshiaki Toyama, Tatsuya Furuichi, Shiro IkegawaVolume:
53
Language:
english
Pages:
5
DOI:
10.1007/s10038-008-0305-z
Date:
August, 2008
File:
PDF, 284 KB
english, 2008