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
KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.
Kumar K et al.
Bmc Medical Genetics, 2020
Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants.
Kane MS et al.
Genes & Diseases, 2019
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