Associated Papers
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Palma-Milla C et al.
Pediatric Neurology, 2024
Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With TRAF7 Variants.
Paprocka J et al.
Frontiers in Medicine, 2021
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Castilla-Vallmanya L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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