Associated Papers
Prenatal Phenotype of Alkuraya-Kučinskas Syndrome: A Novel Case and Systematic Literature Review.
Rice SM et al.
Prenatal Diagnosis, 2024
Compound Heterozygous Variants in a Surviving Patient With Alkuraya-Kučinskas Syndrome: A New Case Report and a Review of the Literature.
Yue L et al.
Frontiers in Pediatrics, 2022
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
Select a paper to view details