Recurrence of Achondrogenesis Type II within the Same Family: Evidence for Germline Mosaicism

American Journal of Medical Genetics

Volumn 126 A, Issue 3, 2004, Pages 308-312

  Faivre, Laurence ^a   Le Merrer, Martine ^b   Douvier, Serges ^c   Laurent, Nicole ^d   Thauvin Robinet, Christel ^a   Rousseau, Thierry ^c   Vereecke, Inge ^f   Sagot, Paul ^c   Delezoide, Anne Lise ^e   Coucke, Paul ^f   Mortier, Geert ^f  

^a Medical University of Dijon   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c HÔPITAL DU BOCAGE   (France)

^d UNIVERSITÉ DE BOURGOGNE   (France)

^e HÔPITAL ROBERT DEBRÉ   (France)

^f GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Achondrogenesis type II; COL2A1; Germline mosaicism; Prenatal diagnosis

Indexed keywords

GENOMIC DNA;

ACHONDROGENESIS 2; AMNION CELL; ARTICLE; BONE DYSPLASIA; CASE REPORT; COL2A1 GENE; DNA DETERMINATION; DNA EXTRACTION; ECHOGRAPHY; EDEMA; FETAL HYGROMA; FETUS; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYGROMA; MICROMELIA; MISSENSE MUTATION; MOSAICISM; PREGNANCY; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECURRENT DISEASE;

EID: 12144288496     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20597     Document Type: Article

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