Cornelia De Lange Syndrome

Known as: Syndrome, Brachmann-De Lange, syndrome cornelia de lange, Typus Degenerativus Amstelodamensis 
A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears… (More)
National Institutes of Health

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Highly Cited
2012
Highly Cited
2012
Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin… (More)
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Highly Cited
2009
Highly Cited
2009
Cornelia de Lange Syndrome (CdLS) is a multi-organ system birth defects disorder linked, in at least half of cases, to… (More)
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2008
2008
Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic… (More)
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2008
2008
BACKGROUND Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. AIMS To delineate the… (More)
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Review
2007
Review
2007
Observations about the natural history of aging in Cornelia de Lange syndrome (CdLS) are made, based on 49 patients from a… (More)
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Highly Cited
2006
Highly Cited
2006
Cornelia de Lange syndrome is a multisystem developmental disorder characterized by facial dysmorphisms, upper limb abnormalities… (More)
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Highly Cited
2006
Highly Cited
2006
BACKGROUND Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly syndrome characterised by a distinctive facial… (More)
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Highly Cited
2004
Highly Cited
2004
Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental disorder characterized by… (More)
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Highly Cited
2004
Highly Cited
2004
Cornelia de Lange syndrome (CdLS) is a multiple malformation disorder characterized by dysmorphic facial features, mental… (More)
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1990
1990
Cornelia de Lange Syndrome (CDLS) is characterized by mental retardation, growth retardation, skeletal anomalies, and a… (More)
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