A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort - Li - 2020 - Molecular Genetics &
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement | Nature Reviews Genetics
Clinical features of the proband and Sanger sequencing results in... | Download Scientific Diagram
Overview of the phenotype and molecular findings of two patients with... | Download Scientific Diagram
Residência Pediátrica - Síndrome de Cornélia de Lange: relato de caso
Clinical signs of Cornelia de Lange patients. (a1) Dysmorphic face of... | Download Scientific Diagram
Genes | Free Full-Text | Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum
A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype - ScienceDirect
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum - Gervasini - 2013 - American Journal of Medical Genetics Part A - Wiley Online Library
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement | Nature Reviews Genetics
A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome - Mio - 2021 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Profile and portrait views of the average face of the CdLS group with... | Download Scientific Diagram
Genes | Free Full-Text | Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis
Manejo anestésico de paciente con Síndrome de Cornelia de Lange - AnestesiaR
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. - Abstract - Europe PMC
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance - Kline - 2007 - American Journal of Medical Genetics Part A - Wiley Online Library
Diagnostics | Free Full-Text | A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms - Kaur - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library
Frontiers | Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome
Atteinte du syndrome de Cornelia de Lange: Waiza, bébé miracle
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation | Human Genome Variation
