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Case Report - Cornelia de Lange syndrome, 12/2003
Two cases of Cornelia de Lange syndrome with similar phenotypic features are reported. 
Cornelia de Lange syndrome, Dwarfism
Journal
1970, 1st ed., 127
Book
Genetic Testing and Molecular Biomarkers, ISSN 1945-0265, 02/2009, Volume 13, Issue 1, p. 15
Journal Article
09/2008
Background: Cornelia de Lange syndrome (CDLS) is a rare multiple congenital anomaly syndrome characterized by a distinctive facial appearance, developmental... 
malformation of upper limbs | distinctive facial features | long philtrum | Cornelia de lange syndrome | Synophrys
Web Resource
Journal of Hand Surgery, ISSN 0363-5023, 2015, Volume 40, Issue 12, pp. 2501 - 2503
Journal Article
Nature, ISSN 0028-0836, 09/2012, Volume 489, Issue 7415, pp. 313 - 317
Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin-loading protein NIPBL1,2 for... 
SISTER-CHROMATID COHESION | NIPPED-B | COMPLEX | NIPBL | HUMAN GENOME | RNA-SEQ | MULTIDISCIPLINARY SCIENCES | X-CHROMOSOME-INACTIVATION | S-PHASE | PROTEINS | BINDING | Chromatin - metabolism | Chondroitin Sulfate Proteoglycans - chemistry | Humans | Crystallography, X-Ray | Male | Phosphoproteins - metabolism | Cell Cycle Proteins - chemistry | Chromatin Immunoprecipitation | Repressor Proteins - deficiency | De Lange Syndrome - metabolism | Fibroblasts | Female | Transcription, Genetic | Acetylation | Binding Sites | Repressor Proteins - metabolism | De Lange Syndrome - genetics | Repressor Proteins - chemistry | Chromosomal Proteins, Non-Histone - metabolism | Histone Deacetylases - genetics | Cell Cycle Proteins - metabolism | Chondroitin Sulfate Proteoglycans - metabolism | Histone Deacetylases - chemistry | Histone Deacetylases - deficiency | Mutant Proteins - genetics | Prophase | Models, Molecular | Repressor Proteins - genetics | Histone Deacetylases - metabolism | Mutant Proteins - metabolism | Nuclear Proteins - metabolism | Mutation - genetics | Proteins - genetics | Mutant Proteins - chemistry | Protein Conformation | HeLa Cells | Adaptor Proteins, Signal Transducing - metabolism | Anaphase | Chromatin - genetics | Chromosomal Proteins, Non-Histone - chemistry | Genetics | De Lange syndrome | Genetic aspects | Research | Mutation (Biology) | Proteins | Cell culture | Genes | Cell cycle | Mutation | Females | Chromosomes | Crystal structure | Chromatin | Repressor Proteins | Life Sciences | Phosphoproteins | Chromosomal Proteins, Non-Histone | Histone Deacetylases | De Lange Syndrome | Chondroitin Sulfate Proteoglycans | Nuclear Proteins | Mutant Proteins | Adaptor Proteins, Signal Transducing | Development Biology | Cell Cycle Proteins
Journal Article
Journal Article
REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS, ISSN 1130-0108, 12/2008, Volume 100, Issue 12, pp. 801 - 803
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2019, Volume 179, Issue 2, pp. 150 - 158
Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes—NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The... 
Cornelia de Lange syndrome | NIPBL | underrepresented minorities | diverse populations | facial analysis technology | CdLS | FACIAL DYSMORPHOLOGY | REARRANGEMENTS | INDIVIDUALS | SYNDROME PHENOTYPE | DOWN-SYNDROME | GENETICS & HEREDITY | MUTATIONS | Data processing | Statistical analysis | Microencephaly | Nose
Journal Article