Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group

American Journal of Medical Genetics

Volumn 93, Issue 3, 2000, Pages 223-229

  McDaniel, Lisa D ^a   Prueitt, Robyn ^a   Probst, Lori C ^a   Wilson, Kathleen S ^a   Tomkins, Darrell ^b   Wilson, Golder N ^a   Schultz, Roger A ^a  

^a UNIVERSITY OF TEXAS AT DALLAS   (United States)

^b UNIVERSITY OF ALBERTA   (Canada)

Author keywords

Cell fusion; Clinical variation; Developmental abnormalities; Genetic complementation; Heterochromatin; Roberts syndrome

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL HYBRIDIZATION; CHROMOSOME ANALYSIS; CLEFT LIP PALATE; GENETIC COMPLEMENTATION; HUMAN; INFANT; MALE; PHENOTYPE; PRIORITY JOURNAL; ROBERTS SYNDROME; SUDAN;

ABNORMALITIES, MULTIPLE; ARM; CELL LINE; CHROMOSOME BANDING; CLEFT LIP; CLEFT PALATE; GENES, RECESSIVE; GENETIC COMPLEMENTATION TEST; HUMANS; INFANT; KARYOTYPING; LEG; MALE; MODELS, GENETIC; PHENOTYPE; SYNDROME;

EID: 0034640645     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000731)93:3<223::AID-AJMG13>3.0.CO;2-J     Document Type: Article

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