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Paper Details

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
Hum Mutat
17
2018
AVSD, Ala367Val, Ala696Thr, Atrioventricular septal defect, CRELD1, Down syndrome, NFAT, NFATC1, NFATC1 gene, NFATC1 mutants, OAVS, TBX1, Val210Met, atrioventricular septal defect, calcineurin, genes, heterotaxy, oculo-auriculo-vertebral spectrum, patients, zebrafish
Author NameAffiliation
Anna SarkozyCasa Sollievo della Sofferenza Hospital, IRCCS
Francesca Romana LepriBambino Gesu Children Hospital, IRCCS
Tommaso MazzaCasa Sollievo della Sofferenza Hospital, IRCCS
Maria Cristina DigilioBambino Gesu Children Hospital, IRCCS
Bruno DallapiccolaBambino Gesu Children Hospital, IRCCS
Marco TartagliaBambino Gesu Children Hospital, IRCCS
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