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Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS). [PDF]
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Clinical Genetics, 2014
Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism.
Boyle, M I +4 more
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Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism.
Boyle, M I +4 more
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Nursing Children and Young People, 2016
Cornelia de Lange syndrome is a congenital condition that can affect many of a child's systems. It was named after the Dutch paediatrician who first identified it.
Doreen, Crawford, Annette, Dearmun
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Cornelia de Lange syndrome is a congenital condition that can affect many of a child's systems. It was named after the Dutch paediatrician who first identified it.
Doreen, Crawford, Annette, Dearmun
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Neonatal Network, 2022
Cornelia de Lange syndrome (CdLS) is a rare, multifactorial, multisystem disorder that affects approximately 1/10,000–100,000 newborns. Mutations and/or variants have been identified in seven genes that have been associated with the diagnosis of this disorder. As all of them affect the cohesin complex, CdLS is also referred to as a “transcriptomopathy”
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Cornelia de Lange syndrome (CdLS) is a rare, multifactorial, multisystem disorder that affects approximately 1/10,000–100,000 newborns. Mutations and/or variants have been identified in seven genes that have been associated with the diagnosis of this disorder. As all of them affect the cohesin complex, CdLS is also referred to as a “transcriptomopathy”
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Epidemiology of Cornelia De Lange's Syndrome.
Acta Paediatrica, International Journal of Paediatrics, 1976Abstract. A prevalence investigation of Cornelia de Lange's syndrome in Denmark is presented. The patients were traced by screening all institutionalized mentally retarded patients, patients in schools and kindergartens for imbecile patients and finally by getting information on Cornelia de Lange patients known to pediatric departments. In this way 24
B Beck
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The Cornelia de Lange syndrome
The Journal of Pediatrics, 1963Attention is called to a complex syndrome of severe growth failure and mental retardation with characteristic associated congenital malformations. Incomplete, and to some extent, faulty differentiation accounts for most of the morphologic anomalies; however, a most important feature of the syndrome is the striking delay in the maturation of structure ...
L J, PTACEK +4 more
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Chromosomes in the Cornelia de Lange syndrome
Human Genetics, 1981This paper summarizes previous chromosomal studies in patients with the Cornelia de Lange syndrome showing abnormal karyotypes. We report on 45 cases of the Cornelia de Lange syndrome clinically examined by one of us (B.B.) and chromosomally studied using several different methods.
B, Beck, M, Mikkelsen
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