title: Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
authors.forename: G
authors.initials: G
authors.lastname: Nishimura
authors.forename: E
authors.initials: E
authors.lastname: Nakashima
authors.forename: A
authors.initials: A
authors.lastname: Mabuchi
authors.forename: K
authors.initials: K
authors.lastname: Shimamoto
authors.forename: T
authors.initials: T
authors.lastname: Shimamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Shimao
authors.forename: T
authors.initials: T
authors.lastname: Nagai
authors.forename: T
authors.initials: T
authors.lastname: Yamaguchi
authors.forename: R
authors.initials: R
authors.lastname: Kosaki
authors.forename: H
authors.initials: H
authors.lastname: Ohashi
authors.forename: Y
authors.initials: Y
authors.lastname: Makita
authors.forename: S
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: D024043:Collagen Type II / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005313:Fetal Death / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000401:mortality; D011859:Radiography; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000401:mortality
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II