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Assuming fg is required, and syndrome is required, the following 3 results were found.

  1. Investigations in Epileptic Encephalopathieshttps://icnapedia.org/wiki/articles/investigations-in-epileptic-encephalopathies

    Differential Diagnosis Epileptic encephalopathies presenting with seizures as prominent/unique symptom Vitamin or enzymatic cofactor dependency Pyridoxine dependent epilepsy Folinic acid responsive epilepsy Pyridoxal-5′-phosphate responsive epilepsy...

    • Type: Article
    • Author: ICNA
    • Category: Home

  2. Opitz-Kaveggia Syndrome (OKS)https://icnapedia.org/wiki/articles/opitz-kaveggia-syndrome-oks

    laxity evolving into joint contractures. Hyperactivity and talkativeness are common. History Initially described as 'FG syndrome' by Opitz and Kaveggia in 1974, using the initials of patients' surnames. Genetic Heterogeneity Different forms of 'FG...

    • Type: Article
    • Author: ICNA
    • Category: Home

  3. MED12L Variant and Its Role in Human Diseasehttps://icnapedia.org/wiki/articles/med12l-variant-and-its-role-in-human-disease

    MED12L is a gene that plays a crucial role in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. It is highly conserved across eukaryotes and contains 43 exons. The protein encoded by MED12L is a component of the Mediator...

    • Type: Article
    • Author: ICNA
    • Category: Home
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