All individuals with variants in gene PIGQ

2 entries on 1 page. Showing entries 1 - 2.
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00037749 - PubMed: Martin HC et al 2014 Early-onset epilepsy with a burst-suppression EEG, consistent with Otahara syndrome. M ? ? (unknown) Western African - 0 - - dysplasia, ectodermal, skin fragility syndrome - 1 1 Philippe Campeau
00207331 12DG0223 PubMed: Alazami et al. 2015 - - yes - - - 0 - - developmental delay Intractable seizure, developmental delay, and optic atrophy 1 1 Philippe Campeau
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