期刊文献+

胎儿四肢短小的产前诊断研究进展 被引量:5

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出处 《安徽医学》 2007年第3期272-274,共3页 Anhui Medical Journal
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  • 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
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  • 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
  • 9Delgado Carrasco J,Casanova Morcilla A,Zabalza Alvillos M.Ayala Garces A.Achondrogenesis type Ⅱ-hypochondrogenesis:radiological features.Esp Pediatr,2001; (55):553~7
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