A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly (Human Mutation, 2018)

(untitled) - Pagnamenta, A; Murakami, Y; Anzilotti, C; Titheradge, H; Oates, A; Morton, J; DDD Study; Kinoshita, T; Kini, U; Taylor, J