[A kindred of metaphyseal chondrodysplasia, Schmid type].
作者信息
Xu J L, Yang G R, Cao J, Liu Z P
出版信息
Yi Chuan Xue Bao. 1988;15(6):462-9.
PMID:3273687
Abstract
摘要
相似文献
1
[A kindred of metaphyseal chondrodysplasia, Schmid type].[一种干骺端软骨发育不良，施密德型的家族]
Yi Chuan Xue Bao. 1988;15(6):462-9.
2
[Unusual osteo-chondrodysplasia: hereditary deforming exostoses. Apropos of a family].[罕见的骨软骨发育异常：遗传性畸形性骨软骨瘤。关于一个家族]
Tunis Med. 1987 Apr;65(4):255-60.
3
A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia.
Biochem Biophys Res Commun. 1995 Dec 26;217(3):1157-62. doi: 10.1006/bbrc.1995.2890.
4
Osteochondromatosis in an isolated community in Manitoba.曼尼托巴省一个孤立社区的骨软骨瘤病。
Arctic Med Res. 1988;47 Suppl 1:415-9.
5
Clinical outcome and genotype in patients with hereditary multiple exostoses.遗传性多发性骨软骨瘤患者的临床结局和基因型
J Orthop Res. 2007 Dec;25(12):1541-51. doi: 10.1002/jor.20479.
6
Hereditary multiple exostoses. Report of a family.
Clin Orthop Relat Res. 1984 Nov(190):217-9.
7
The verification of dominant inheritance by means of pedigree investigation.通过系谱调查对显性遗传进行验证。
J R Coll Gen Pract. 1973 Apr;23(129):289-92.
8
Hereditary multiple exostoses: confirmation of linkage to chromosomes 8 and 11.遗传性多发性骨软骨瘤：与8号和11号染色体连锁关系的确证。
Am J Med Genet. 1996 Mar 15;62(2):150-9. doi: 10.1002/(SICI)1096-8628(19960315)62:2<150::AID-AJMG7>3.0.CO;2-#.
9
Hereditary multiple and isolated sporadic exostoses in the same kindred: identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes.同一家族中的遗传性多发性和散发性孤立性骨软骨瘤：致病基因（EXT2）的鉴定及一种区分两种表型的新突变nt112delAT的检测。
Int J Mol Med. 2004 Jan;13(1):47-52.
10
Familial multiple exostoses syndrome: a phacomatosis of bone tissue.家族性多发性骨软骨瘤综合征：一种骨组织错构瘤病。
Acta Neurol (Napoli). 1986 Oct;8(5):516-27.
Zotero 插件