Associated Papers
Prenatal Phenotype of Alkuraya-Kučinskas Syndrome: A Novel Case and Systematic Literature Review.
Rice SM et al.
Prenatal Diagnosis, 2024
KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.
Kumar K et al.
Bmc Medical Genetics, 2020
Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.
Cabet S et al.
Prenatal Diagnosis, 2020
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Gueneau L et al.
American Journal of Human Genetics, 2018
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