Presentation Information
[P1-07-02]Double de novo pathogenic variants of the NF1 and H1-4 genes in a patient with macrocephaly and intellectual disability
Yumi Enomoto1, Yasuyuki Fukuhara2, Kumiko Yanagi1, Masahiko Yamamori1, Tadashi Kaname1,3 (1. Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 2. Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan, 3. Department of Advanced Pediatric Medicine, Tohoku University School of Medicine, Sendai, Japan)
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