ArticleInternational medical case reports journal2026
Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a
Article in International medical case reports journal, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Birk-Barel syndrome (BIBARS), also known as Methods: An institutionalized adult female patient with intellectual disability and challenging behaviours was presented whose history was carefully described and in whom extensive somatic, neurological, psychiatric and psychological investigation was performed, in addition to whole exome sequencing. Results: Intellectual disability, developmental delay with severe psychotrauma from early age on, as well as severe aggressive and self-injurious behaviours were established. Whole exome sequencing finally disclosed a pathogenic variant in the Discussion: A pathogenic heterozygous missense variant in the
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