Citations for
1ACAN, SEMDAG
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported.
Fukuhara Y, Cho SY, Miyazaki O, Hattori A, Seo JH, Mashima R, Kosuga M, Fukami M, Jin DK, Okuyama T, Nishimura G.
Clin Dysmorphol 28(1):26-29. doi: 10.1097/MCD.0000000000000241. No abstract available. 2019
2ACAN, SEMDAG
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MF, Heath KE, Jorge AA, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Pruhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin EL, Swartz J, Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A.
J Clin Endocrinol Metab 102(2):460-469. doi: 10.1210/jc.2016-3313. 2017