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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

✍ Scribed by Atsushi Miyake; Gen Nishimura; Toru Futami; Hirofumi Ohashi; Kazuhiro Chiba; Yoshiaki Toyama; Tatsuya Furuichi; Shiro Ikegawa

Book ID: 106252351
Publisher: Nature Publishing Group
Year: 2008
Tongue: English
Weight: 284 KB
Volume: 53
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s10038-008-0305-z

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