KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.
Kishore KumarAnikha BelladPramada PrasadSatish Chandra GirimajiBabylakshmi MuthusamyPublished in: BMC medical genetics (2020)
Our study is the second study reporting a KIAA1109 variant in surviving patients with Alkuraya-Kučinskas syndrome. Our study expands the spectrum of phenotypic features and mutations associated with Alkuraya-Kučinskas syndrome.
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