Associated Papers
Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.
He D et al.
Orphanet Journal of Rare Diseases, 2024
Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.
Shangguan H et al.
Frontiers in Pediatrics, 2022
35935361 (PubMed )
Supplement: Table_1.XLSX › Table_S1
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Latorre-Pellicer A et al.
Scientific Reports, 2021
34326454 (PubMed )
Supplement: 41598_2021_94958_MOESM1_ESM.pdf
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
KBG syndrome.
Morel Swols D et al.
Orphanet Journal of Rare Diseases, 2017
29258554 (PubMed )
Supplement: 13023_2017_736_MOESM1_ESM.xlsx › Sheet1
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Goldenberg A et al.
American Journal of Medical Genetics. Part A, 2016
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
Parenti I et al.
Clinical Genetics, 2016
Select a paper to view details