📄 Articolo condiviso da Novixa
Studio di coorteEziologie genetiche diverse della polimicrogiria unilaterale.
Lai A, Neil JE, Akula SK, Amrom D, Andermann E, Bergin A, et al.
OBJECTIVE: Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere. As most PMGs occur bilaterally, there has been no specific investigation as to whether the genetic underpinnings of uPMG comprise a subset of or a distinct entity from bilateral PMG. In this study, our goal was to assess both the genetic etiology of uPMG and the value of diagnostic genetic testing in this setting. METHODS: We conducted a retrospective analysis of clinical data from individuals with uPMG seen in the B
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🔒 Metodologia, numeri e implicazioni pratiche
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