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
35311058 (PubMed )
Supplement: Table_1.XLSX › all
Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers.
Meszarosova AU et al.
Clinical Dysmorphology, 2020
Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome.
Filatova A et al.
Clinical Genetics, 2019
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