The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant
Kyung Hee Kim, Ji Yoon Han, Joonhong Park, Jung Sun ChoThe Catholic University of Korea. Jeonbuk National University Medical School and Hospital. Republic of Korea International Journal of Molecular SciencesInt J Mol Sci 2024; 25:DOI: 10.3390/ijms25073701 AbstractTRAF7-related disorders represent some of the rarest inherited disorders, exhibiting clinical features that overlap with cardiac, facial, and digital anomalies […]
