Published in
Wiley, Human Mutation: Variation, Informatics and Disease, 6(39), p. 822-826, 2018
DOI: 10.1002/humu.23420
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A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly
Journal article published in 2018 by
Alistair T. Pagnamenta,
Yoshiko Murakami,
Consuelo Anzilotti,
Hannah Titheradge,
Adam J. Oates,
Jenny Morton,
Taroh Kinoshita,
Usha Kini,
Jenny C. Taylor 
This paper is made freely available by the publisher.
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