The 22q11.2 deletion: From diversity to a single gene theory

Genetics in Medicine

Volumn 3, Issue 1, 2001, Pages 2-5

  De Decker, Hendrik Paul ^a   Lawrenson, John Bernard ^a  

^a RED CROSS WAR MEMORIAL CHILDREN S HOSPITAL   (South Africa)

Author keywords

Cardiac defects; Congenital disease; Deletion 22q11; UFD1L

Indexed keywords

PROTEASOME; PROTEIN; S26 PROTEASOME; TRANSCRIPTION FACTOR; UBIQUITIN; UBIQUITIN FUSION DEGRADATION 1 LIKE PROTEIN; UNCLASSIFIED DRUG;

CARDIOVASCULAR MALFORMATION; CAYLER SYNDROME; CHROMOSOME 22; CHROMOSOME ARM; CHROMOSOME DELETION; CHROMOSOME DELETION 22Q SYNDROME; CHROMOSOME DELETION 22Q11 SYNDROME; CHROMOSOME DELETION 22Q11.2; CLEFT PALATE; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL HEART MALFORMATION; CYTOGENETICS; DIGEORGE SYNDROME; DISEASE ASSOCIATION; EMBRYO DEVELOPMENT; EVIDENCE BASED MEDICINE; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE LOCATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HEART DEVELOPMENT; HEART DISEASE; HUMAN; HYPOCALCEMIA; HYPOPLASIA; ORGANOGENESIS; PATHOGENESIS; PREVALENCE; PROTEIN DEGRADATION; SIGNAL TRANSDUCTION; STRUCTURAL CHROMOSOME ABERRATION; TAKAO SYNDROME; THYMUS DISEASE; VELOCARDIOFACIAL SYNDROME;

EID: 0035746390     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200101000-00002     Document Type: Conference Paper

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