{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kim KH"],"funding":["National Research Foundation of Korea (NRF) grant funded by the Korean government (MSIT)"],"pagination":["3701"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11011995"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["25(7)"],"pubmed_abstract":["<i>TRAF7</i>-related disorders represent some of the rarest inherited disorders, exhibiting clinical features that overlap with cardiac, facial, and digital anomalies with developmental delay (CAFDADD) syndrome, as well as blepharophimosis-mental retardation syndrome (BMRS). A 36-year-old male, presenting with total blindness, blepharophimosis, and intellectual disability, was admitted for the assessment of resting dyspnea several months previously. He had a history of being diagnosed with obstructive sleep apnea (OSA). Transesophageal and transthoracic echocardiography unveiled right ventricular dilatation without significant pulmonary hypertension, bicuspid aortic valve with aortic root aneurysm, and aortic regurgitation in the proband. Sanger sequencing identified a de novo <i>TRAF7</i>"],"journal":["International journal of molecular sciences"],"pubmed_title":["The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo <i>TRAF7</i> p.Arg655Gln Variant."],"pmcid":["PMC11011995"],"funding_grant_id":["5-20225A0154-00126"],"pubmed_authors":["Park J","Kim KH","Han JY","Cho JS"],"additional_accession":[]},"is_claimable":false,"name":"The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo <i>TRAF7</i> p.Arg655Gln Variant.","description":"<i>TRAF7</i>-related disorders represent some of the rarest inherited disorders, exhibiting clinical features that overlap with cardiac, facial, and digital anomalies with developmental delay (CAFDADD) syndrome, as well as blepharophimosis-mental retardation syndrome (BMRS). A 36-year-old male, presenting with total blindness, blepharophimosis, and intellectual disability, was admitted for the assessment of resting dyspnea several months previously. He had a history of being diagnosed with obstructive sleep apnea (OSA). Transesophageal and transthoracic echocardiography unveiled right ventricular dilatation without significant pulmonary hypertension, bicuspid aortic valve with aortic root aneurysm, and aortic regurgitation in the proband. Sanger sequencing identified a de novo <i>TRAF7</i>","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Mar","modification":"2025-04-06T23:14:18.229Z","creation":"2025-04-06T23:14:18.229Z"},"accession":"S-EPMC11011995","cross_references":{"pubmed":["38612512"],"doi":["10.3390/ijms25073701"]}}