Author

Busra Aynekin

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Case report Jul 2026

“Severe intellectual disability with cardiac and dermatologic involvement due to homozygous METTL23 frameshift mutation: a case report of two Turkish sisters”

This is the first report of the c.470_471del (p.Leu157ArgfsTer4) variant in a homozygous state, providing novel insights into genotype–phenotype correlations and significantly broaden the known clinical spectrum of METTL23-associated disorders.

Mücahid Besnek, Busra Aynekin, Ayten Güleç et al. · Neurological Sciences · 0 citations