Several somatic mutations in TRAF7 have been reported in cancers, whereas a few germline heterozygous mutations have been recently linked to a neurodevelopmental disorder, characterized by craniofacial dysmorphisms, congenital heart defects, and digital anomalies.
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder
Torella, Annalaura;Nigro, Vincenzo;
2020
Abstract
Several somatic mutations in TRAF7 have been reported in cancers, whereas a few germline heterozygous mutations have been recently linked to a neurodevelopmental disorder, characterized by craniofacial dysmorphisms, congenital heart defects, and digital anomalies.File in questo prodotto:
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