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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… 
National Institutes of Health

Related topics

Related topics

40 relations
2-3 toe cutaneous syndactylyAbnormal renal morphologyAutosomal dominant inheritanceBlepharoptosis

Narrower (1)

Congenital muscular hypertrophy-cerebral syndrome

Broader (1)

Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
1996
Highly Cited
1996
Demography, group composition, and dispersal in wild cotton‐top tamarin (Saguinus oedipus) groups
Groups of individually marked cotton‐top tamarins (Saguinus oedipus), located in La Reserva Forestal Protectora Serranía de… 
Highly Cited
1996
Highly Cited
1996
Pädagogische Professionalität : Untersuchungen zum Typus pädagogischen Handelns
Highly Cited
1995
Highly Cited
1995
Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype.
et al,5 respectively. To identify the IVS 1 (-13T-*G) mutation, two PCR primer sets were designed, based on the amplification… 
Review
1994
Review
1994
Cystic duct leaks in laparoscopic cholecystectomy.
Highly Cited
1982
Highly Cited
1982
Geografía y recursos naturales de Bolivia
Highly Cited
1970
Highly Cited
1970
The composition of milk xanthine oxidase.
The composition of milk xanthine oxidase has been reinvestigated. When the enzyme is prepared by methods that include a selective… 
Review
1967
Review
1967
De Lange syndrome: report of 20 cases.
Typus Degenerativus Amstelodamensis or Amsterdam dwarfism, a syndrome of unknown etiology characterized by mental retardation, a… 
Highly Cited
1966
Highly Cited
1966
Familial de Lange syndrome with chromosome abnormalities.
Familial de Lange syndrome is described in three siblings and a maternal first cousin. A new chromosomal aberration has been… 
Highly Cited
1965
Highly Cited
1965
Historia de Chile
Highly Cited
1964
Highly Cited
1964
BRACHMANN/DE LANGE SYNDROME.
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