Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome

Clin Genet. 2019 Mar;95(3):440-441. doi: 10.1111/cge.13472. Epub 2018 Nov 28.

Authors

Affiliations

¹ Research Centre for Medical Genetics, Moscow, Russia.
² Genomed Ltd., Moscow, Russia.
³ MD Medical Group "Mother and Child", Moscow, Russia.
⁴ Institute of Professional Education, I. M. Sechenov First Moscow State Medical University, Moscow, Russia.
⁵ School of Biomedicine, Far Eastern Federal University, Vladivostok, Russia.

PMID: 30485398
DOI: 10.1111/cge.13472

No abstract available

Publication types

Letter

MeSH terms

Abnormalities, Multiple / diagnosis*
Abnormalities, Multiple / genetics*
Alternative Splicing*
DNA Mutational Analysis
Genetic Association Studies* / methods
Genetic Predisposition to Disease*
Genetic Variation*
Humans
Pedigree
Proteins / genetics*
Russia
Ultrasonography, Prenatal

Substances

KIAA1109 protein, human
Proteins