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Clinical presentation of IDDMSSD syndrome likely associated with molecular location of mutation in PAK1 gene https://t.co/a0YNXcFoPC https://t.co/rsZLJYiRpP
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RT @bcm_neurosci: Dr. @HTChaoLab et al. powering through the study of rare neurological genes such as #PAK1 to unravel #rarediseases & cond…
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In case you missed it: a study led by @HTChaoLab published in the AJMG: Part A found potential correlations between how & which organ systems are affected in individuals with a rare #epilepsy syndrome & protein domains where the PAK1 variants are p
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Dr. @HTChaoLab et al. powering through the study of rare neurological genes such as #PAK1 to unravel #rarediseases & conditions! 👏 New paper out now in the AJMG on a condition with only 8 known people worldwide: https://t.co/2Fg0Vovz4c @bcm_neurosci