De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome

BACKGROUND: Coffin–Siris syndrome is an extremely rare syndrome associated with developmental and congenital anomalies. It is caused by heterozygous pathogenic variants of ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, and SOX11. METHODS: This case study presents the whole exome sequencing of a patient...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Genomic Med
Prif Awduron: Pranckėnienė, Laura, Siavrienė, Evelina, Gueneau, Lucie, Preikšaitienė, Eglė, Mikštienė, Violeta, Reymond, Alexandre, Kučinskas, Vaidutis
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2019
Pynciau:
Clinical Reports
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6900373/
https://ncbi.nlm.nih.gov/pubmed/31628733
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1006
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