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6. Founder mutation Arg485Pro led to recurrent compound heterozygous GGCX genotypes in two German patients with VKCFD type 1. Rost S; Geisen C; Fregin A; Seifried E; Müller CR; Oldenburg J Blood Coagul Fibrinolysis; 2006 Sep; 17(6):503-7. PubMed ID: 16905958 [TBL] [Abstract][Full Text] [Related]
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19. Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders. Wulfsberg EA; Curtis J; Jayne CH Am J Med Genet; 1992 Jul; 43(5):823-8. PubMed ID: 1642270 [TBL] [Abstract][Full Text] [Related]
20. Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report. Benaicha A; Dommergues M; Jouannic JM; Jacquette A; Alexandre M; Le Merrer M; Ducou Le Pointe H; Garel C Ultrasound Obstet Gynecol; 2009 Dec; 34(6):724-6. PubMed ID: 19856318 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]