Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family

Prenatal Diagnosis

Volumn 28, Issue 1, 2008, Pages 42-45

  Schulz, Solveig ^a   Gerloff, Claudia ^a   Ledig, Susanne ^a   Langer, Dorothea ^a   Volleth, Mariannne ^a   Shirneshan, Katayoon ^a   Wieacker, Peter ^a,b  

^a OTTO VON GUERICKE UNIVERSITY   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

ESCO2 gene; Frameshift mutation; Heterochromatin repulsion; Prenatal diagnosis; Reduction defects; Roberts syndrome

Indexed keywords

CHROMOSOME PROTEIN; PROTEIN ESCO2; UNCLASSIFIED DRUG;

AMNIOCENTESIS; AMNION CELL; ANEUPLOIDY; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE SEQUENCE; HUMAN; KARYOTYPE; MALE; METAPHASE; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; ROBERTS SYNDROME;

ACETYLTRANSFERASES; AMNIOCENTESIS; CHROMOSOMAL PROTEINS, NON-HISTONE; CRANIOFACIAL ABNORMALITIES; CYTOGENETIC ANALYSIS; DNA; FEMALE; FRAMESHIFT MUTATION; GROWTH DISORDERS; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; PAKISTAN; PREGNANCY; PRENATAL DIAGNOSIS; SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 39149140117     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1904     Document Type: Article

References (7)

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