Genetic counselling and prenatal diagnosis of osteogenesis imperfecta caused by paternal mosaicism

Prenatal Diagnosis

Volumn 16, Issue 11, 1996, Pages 1032-1038

  Lund, Allan M ^a   Schwartz, Marianne ^a   Skovby, Flemming ^a  

^a Rigshospitalet   (Denmark)

Author keywords

COL1A2; Genetic counselling; Mosaicism; Osteogenesis imperfecta; Prenatal diagnosis

Indexed keywords

COLLAGEN; RESTRICTION ENDONUCLEASE;

ARTICLE; CASE REPORT; FETUS; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; HUMAN CELL; MOSAICISM; OSTEOGENESIS IMPERFECTA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY;

CHORIONIC VILLI SAMPLING; COLLAGEN; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FATHERS; FEMALE; GENETIC COUNSELING; GESTATIONAL AGE; HUMANS; MALE; MOSAICISM; OSTEOGENESIS IMPERFECTA; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0029832730     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199611)16:11<1032::AID-PD984>3.0.CO;2-9     Document Type: Article

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