1Sippola M,Kaffe S,Prockop DJ.A heterozygous defect for structurally altered pro-alpha 2 chain of type Ⅰ procollagen in a mild variant of osteogenesis imperfecta.The altered structure decreases the thermal stability of procollagen and makes it resistant to procollagen N-proteinase.Biol Chem,1984; (25):14094~100
2Kobayasi T.Abnormality of dermal collagen fibrils in Ehlers Danlos syndrome.Anticipation of the abnormality for the inherited hypermobile disorders.Dermatol,2004; 14 (4):221~9
3Maeda K,Miyamoto Y,Sawai H,et al.A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type Ⅱ and diastrophic dysplasia.Med Genet A,2006;(11):1143~7
5Makitie 0,Savarirayan R,Bonafe L,et al.Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene:double-layer patella as a reliable sign.Med Genet A,2003;(15):187~92
6Czarny-Ratajczak M,Rogala P,Wolnik-Brzozowska D,et al.Osteochondrodysplasia determined genetically by a collagen type Ⅱ gene mutation.Chir Narzadow ruchu Ortop Pol,2001; (66):79~86
7Unger S,Le merrer M,Meinecke P,et al.New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias.Pediatr Radiol,2001; (31):893~4
8Macias-Gomez NM,Megarbane A,Leal-Ugarte E,et al.iastrophic dysplasia and atelosteogenesis type Ⅱ as expression of compound heterozygosis:first report of a Mexican patient and genotype-phenotype correlation.Med Genet A,2004; (30):190~2
10Faivre L,Le Merrer M,Douvier S,et al.Recurrence of achondrogenesis type Ⅱ within the same family:evidence for germline sosaicism.Genet A,2004; (30):308~12