Article
Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.
American journal of medical genetics. Part A - 1 May 2018
Owen Ceris I, Bowden Ramsay, Parker Michael J, Patterson Jo, Patterson Joan, Price Sue, Sarkar Ajoy, Castle Bruce, Deshpande Charulatha, Splitt Miranda, Ghali Neeti, Dean John, Green Andrew J, Crosby Charlene, Tatton-Brown Katrina
Abstract excerpt
Variants in the Protein Kinase CK2 alpha subunit, encoding the CSNK2A1 gene, have previously been reported in children with an intellectual disability and dysmorphic facial features syndrome: now termed the Okur-Chung neurodevelopmental syndrome. More recently, through trio-based exome sequencing undertaken by the Deciphering Developmental Disorders Study (DDD study), a further 11 children with de novo CSNK2A1...
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