A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome
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M. Dattani | O. Koulouri | M. Gurnell | E. Roche | D. Bernard | L. Persani | M. Bonomi | A. Nicholas | N. Schoenmakers | D. Halsall | N. Abid | A. McGowan | G. Lyons | R. El-Khairi | Marc-Olivier Turgeon | E. Heffernan