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
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
Pisan E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
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
Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.
Nolan D et al.
Journal of Child Neurology, 2016
26863999 (PubMed )
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