Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome

Prenatal Diagnosis

Volumn 24, Issue 2, 2004, Pages 111-113

  Muschke, Petra ^a   Gola, Hannswerner ^b   Varon, Raymonda ^c   Röpke, Albrecht ^a   Zumkeller, Walter ^a   Wieacker, Peter ^a   Stumm, Markus ^a,d,e  

^a OTTO VON GUERICKE UNIVERSITY   (Germany)

^b Practice for Gynecology and Clinical Research   (Germany)

^c HUMBOLDT UNIVERSITY   (Germany)

^d Center for Prenatal Diagnosis and Human Genetics   (Germany)

^e Pränatale Diagnostik ^*  (Germany)

Author keywords

Hydrocephalus; Nijmegen breakage syndrome; Prenatal diagnosis; Prenatal ultrasound

Indexed keywords

DNA;

AMNIOCENTESIS; ARTICLE; CASE REPORT; CONGENITAL HIP DISLOCATION; ECTOPIC KIDNEY; FAMILY COUNSELING; FEMALE; FETUS; FETUS ECHOGRAPHY; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOSITY; HUMAN; HYDROCEPHALUS; MALE; MEDICAL RECORD; MICROCEPHALY; MOLECULAR GENETICS; NIJMEGEN BREAKAGE SYNDROME; NORMAL HUMAN; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; RETROSPECTIVE STUDY; SYNDACTYLY;

ABNORMALITIES, MULTIPLE; ADULT; CELL CYCLE PROTEINS; FATAL OUTCOME; FEMALE; GENETIC COUNSELING; HETEROZYGOTE; HUMANS; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; INFANT; MALE; MOLECULAR BIOLOGY; MUTATION; NUCLEAR PROTEINS; PREGNANCY; PRENATAL DIAGNOSIS; RETROSPECTIVE STUDIES; SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 1542351171     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.803     Document Type: Article

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