Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder.,Birth Defects Research

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Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder.
Birth Defects Research ( IF 2.1 ) Pub Date : 2020-05-27 , DOI: 10.1002/bdr2.1711
Andrea Accogli _{1,

2} , Marcello Scala _{1,

2} , Marco Pavanello ₃ , Mariasavina Severino ₄ , Carlo Gandolfo ₄ , Patrizia De Marco ₁ , Francesco Musacchia ₅ , Annalaura Torella _{5,

6} , Michele Pinelli ₅ , Vincenzo Nigro _{5,

6} , Valeria Capra ₃

Affiliation

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.

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