Article

CDK10 gene mutation in a Chinese girl with Al Kaissi syndrome

2023-10-11

Abstract excerpt

<h4>Background: </h4> Al Kaissi syndrome is an autosomal recessive developmental disorder caused by variants in the CDK10 gene with a variable clinical presentation characterized by growth retardation, spinal deformities, especially the cervical spine, facial deformities, psychomotor development retardation with moderate to severe intellectual disability. <h4>Methods: </h4> A 9 years and 5 months old Chinese girl...

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Literature Corpus work: 793d9782-2783-5272-a956-5877af904913
DOI: 10.21203/rs.3.rs-3375493/v1

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