Associated Papers
Prenatal Phenotype of Alkuraya-Kučinskas Syndrome: A Novel Case and Systematic Literature Review.
Rice SM et al.
Prenatal Diagnosis, 2024
Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers.
Meszarosova AU et al.
Clinical Dysmorphology, 2020
Molecular autopsy in maternal-fetal medicine.
Shamseldin HE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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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