Cornelia de Lange syndrome

Clinical Genetics

Volumn 88, Issue 1, 2015, Pages 1-12

  Boyle, M I ^a   Jespersgaard, C ^a   Brondum Nielsen K ^a   Bisgaard, A M ^a   Tumer Z ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Cornelia de Lange syndrome; HDAC8; NIPBL; RAD21; SMC1A; SMC3

Indexed keywords

HISTONE DEACETYLASE 8; NIPPED B LIKE PROTEIN; PROTEIN; RAD21 PROTEIN; STRUCTURAL MAINTENANCE OF CHROMOSOME 1A; STRUCTURAL MAINTENANCE OF CHROMOSOME 3; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; HDAC8 PROTEIN, HUMAN; HISTONE DEACETYLASE; NIPBL PROTEIN, HUMAN; NONHISTONE PROTEIN; NUCLEAR PROTEIN; PHOSPHOPROTEIN; PROTEOCHONDROITIN SULFATE; RAD21 PROTEIN, HUMAN; REPRESSOR PROTEIN; SMC3 PROTEIN, HUMAN; STRUCTURAL MAINTENANCE OF CHROMOSOME PROTEIN 1;

BEHAVIOR DISORDER; CARDIOVASCULAR DISEASE; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COFFIN LOWRY SYNDROME; CRANIOFACIAL MALFORMATION; DE LANGE SYNDROME; DIAGNOSTIC APPROACH ROUTE; DIFFERENTIAL DIAGNOSIS; FETAL ALCOHOL SYNDROME; FRYNS SYNDROME; GASTROINTESTINAL DISEASE; GENETIC COUNSELING; GENETIC DATABASE; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; GROWTH; GROWTH RETARDATION; HUMAN; HUMORAL IMMUNE DEFICIENCY; INTELLECTUAL IMPAIRMENT; KBG SYNDROME; NEUROLOGIC DISEASE; PARTIAL DUPLICATION OF 3Q; PERINATAL PERIOD; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PUBERTY; RARE DISEASE; REVIEW; ROBERTS SYNDROME; RUBINSTEIN SYNDROME; SENSORY DYSFUNCTION; SKELETON MALFORMATION; SKIN MANIFESTATION; UROGENITAL TRACT DISEASE; WARSAW BREAKAGE SYNDROME; FEMALE; GENETICS; MALE; MUTATION; PHENOTYPE; PRESCHOOL CHILD;

SCHIZOSACCHAROMYCES POMBE;

CELL CYCLE PROTEINS; CHILD, PRESCHOOL; CHONDROITIN SULFATE PROTEOGLYCANS; CHROMOSOMAL PROTEINS, NON-HISTONE; DE LANGE SYNDROME; FEMALE; HISTONE DEACETYLASES; HUMANS; MALE; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; PHOSPHOPROTEINS; PROTEINS; REPRESSOR PROTEINS;

EID: 84930398274     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12499     Document Type: Review

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