The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported

  • Fukuhara, Yasuyuki; 
  • Cho, Sung Y.; 
  • Miyazaki, Osamu; 
  • Hattori, Atsushi; 
  • Seo, Joo-Hyun; 
  • 외 6명
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16
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15

키워드

GENE; CHONDRODYSTROPHY; IDENTIFICATION; PROTEOGLYCANS; MUTATIONS; DWARFISM; DELETION; PROTEIN; DOMAINS; MOUSE
제목
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported
저자
Fukuhara, Yasuyuki; Cho, Sung Y.; Miyazaki, Osamu; Hattori, Atsushi; Seo, Joo-Hyun; Mashima, Ryuichi; Kosuga, Motomichi; Fukami, Maki; Jin, Dong-Kyu; Okuyama, Torayuki; Nishimura, Gen
DOI
10.1097/MCD.0000000000000241
발행일
2019-01
유형
Article
저널명
Clinical Dysmorphology
권
28
호
1
페이지
26 ~ 29