Novel mutations in SLC30A2 involved in the pathogenesis of transient neonatal zinc deficiency.

Naoya ItsumuraYoshie KibiharaKazuhisa FukueAkiko MiyataKenji FukushimaRisa Tamagawa-MineokaNorito KatohYukina NishitoRiko IshidaHiroshi NaritaHiroko KodamaTaiho Kambe

Published in: Pediatric research (2016)

Our results indicate that many SLC30A2/ZnT2 mutations cause or potentially cause TNZD. Genetic information concerning TNZD pathogenesis is limited, and our results suggest that the TNZD frequency may be higher than previously thought.

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