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)
Source: Pediatric Rheumatology
Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda
Source: BMC Medical Genomics
New pathogenic variant c.3855+4A>G in the NIPBL gene associated with Cornelia de Lange syndrome type 1 (OMIM#122470)
Source: Anales de Pediatria
A case of Cornelia de Lange syndrome caused by a new variant of NIPBL gene (c.7201G > T)
Source: Chinese Journal of Primary Medicine and Pharmacy
Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant
Source: Molecular Syndromology
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