Associated Papers
The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders.
Yılmaz M et al.
American Journal of Medical Genetics. Part A, 2024
Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability.
Waqas A et al.
Frontiers in Genetics, 2022
A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.
Mohamoud HS et al.
Scientific Reports, 2018
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