Oct 2026
Clinical spectrum and genetic landscape of MTHFR deficiency: a cohort study including novel variants
Ö. K. Karalar Pekuz, Pelin Teke Kısa, Sevil Yıldız et al.
· Neurological Sciences · 0 citations
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Case report
Open access
Jul 2026
THUMPD1-Related Neurodevelopmental Disorder: A Novel Homozygous Loss-of-Function Variant with an Unusual Skeletal Phenotype - A Case Report.
The presence of the finding in only 1 of the 2 affected siblings, both of whom carry the same homozygous variant, limits the strength of the genotype-phenotype association, and a definitive causal relationship between the THUMPD1 variant and the skeletal phenotype cannot be established.
Serife Ozturk Yilmaz, M. Kocabey, H. B. Şenol et al.
· Molecular Syndromology · 0 citations