Sep 2026· Zeitschrift für Induktive Abstammungs- und Vererbungslehre· Vol 301· 0 citations· 38 references
Medicine
TL;DR
Vitamin E supplementation resulted in biochemical correction and was accompanied by possible partial clinical improvement despite initiation in adulthood, and highlights the importance of MNV-aware interpretation of closely spaced substitutions.
Ataxia–telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ATM gene, characterized by progressive cerebellar ataxia, telangiectasias, immunodeficiency, and increased cancer risk Reporting the phenotypic spectrum of ATM variants is essential to refine genotype–phenotype correlations. W...
Zyad Al-Frejat, Leen Azzam, Grace Hanna et al.· Molecular Genetics and Metab...· 0 citations
ABCA13 encodes ATP-binding cassette subfamily A member 13, one of the largest members of the ABC transporter family. Rare ABCA13 variants have been reported in neuropsychiatric and neurodevelopmental phenotypes, including schizophrenia, bipolar disorder, autism spectrum disorder, intellectual disability, and developmen...
M. Atanasoska, L. Balabanski, D. Avdjieva-Tzavella et al.· Clinical Genetics· 0 citations
Biallelic loss-of-function variants in NRROS (Negative regulator of reactive oxygen species, previously LRRC33) cause a progressive neurodegenerative disorder characterized by early-onset seizures with brain calcifications. To date, 16 affected individuals from 13 unrelated families have been reported for this conditio...
M. Ganapathi, Sean D. Fraser, Joseph Ryu et al.· HGG advances· 0 citations
ABSTRACT Background Rett syndrome (RTT) is a neurodevelopmental disorder mainly affecting females and may start with seemingly normal early development but leads to developmental stagnation, regression, and characteristic neurological symptoms. While most cases involve MECP2 variants, other genes have been implicated i...
Jenny Klintenstedt, P. Baeck, I. Engerström et al.· Molecular Genetics & Genomic...· 0 citations
The variant spectrum of PMPCB-related MMDS6 is expanded and the potential pathogenic mechanism of PMPCB gene variants is revealed, preliminary speculate that PMPCB might be a critical upstream regulator of FXN maturation.
Yin-Yin Wu, Ji-Hong Tang, Li-Ya Zhang et al.· Frontiers in Pediatrics· 0 citations
The EEFSEC gene encodes eukaryotic elongation factor selenocysteine-tRNA-specific, an essential component of the selenoprotein biosynthesis machinery required for normal neurodevelopment. Biallelic EEFSEC variants have recently been associated with a rare autosomal recessive neurodevelopmental disorder with variable ne...
Kubra Ates, Bülent Kara· American Journal of Medical...· 0 citations
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