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Article

Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers.

Clinical dysmorphology - 1 Oct 2020

Meszarosova Anna Uhrova, Lastuvkova Jana, Rennerova Ladislava, Hitka Patrik, Cihlar Filip, Seeman Pavel, Safka Brozkova Dana

Abstract excerpt

Recently described Alkuraya-Kučinskas syndrome (ALKKUCS) clinically presented with severe congenital hydrocephalus, severe brain hypoplasia and other multiple malformations has been described in only few families worldwide to date. ALKKUCS is caused by biallelic pathogenic variants in the KIAA1109 gene with autosomal recessive inheritance. We describe two brothers of Roma origin born with severe congenital...

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PMID: 32657846
DOI: 10.1097/MCD.0000000000000335

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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