Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome
Author:
Funder
Narodowe Centrum Nauki
Publisher
Frontiers Media SA
Subject
Pediatrics, Perinatology, and Child Health
Reference23 articles.
1. Genotype-phenotype correlations in Cornelia de Lange syndrome: behavioral characteristics and changes with age;Moss;Am J Med Genet A.,2017
2. Mutation spectrum and genotype-phenotype correlation in cornelia de lange syndrome;Mannini;Hum Mutat.,2013
3. On the molecular etiology of Cornelia de Lange Syndrome;Drosett;Ann N Y Acad Sci.,2009
4. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA;Revenkova;Hum Mol Genet.,2009
5. Cohesin: functions beyond sister chromatid cohesion;Metha;FEBS Lett.,2013
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1. Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms;American Journal of Medical Genetics Part A;2023-06-28
2. Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort;Frontiers in Genetics;2022-08-30
3. A Novel de Novo Variant in 5′ UTR of the NIPBL Associated with Cornelia de Lange Syndrome;Genes;2022-04-22
4. Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology;Genes;2022-02-11
5. Cornelia de Lange Syndrome as Paradigm of Chromatinopathies;Frontiers in Neuroscience;2021-11-05
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