{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T10:53:48Z","timestamp":1778842428927,"version":"3.51.4"},"reference-count":18,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"02","funder":[{"name":"MINECO\/FEDER, EU","award":["BFU2017\u201384653-P"],"award-info":[{"award-number":["BFU2017\u201384653-P"]}]},{"name":"Severo Ochoa Excellence Program","award":["SEV-2016\u20130644"],"award-info":[{"award-number":["SEV-2016\u20130644"]}]},{"name":"UbiCODE Program","award":["765445-EU"],"award-info":[{"award-number":["765445-EU"]}]},{"name":"UBIRed Program","award":["SAF2017\u201390900-REDT"],"award-info":[{"award-number":["SAF2017\u201390900-REDT"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Townes\u2013Brocks syndrome (TBS) is a rare syndrome characterized by triad of anal, ear, and thumb anomalies. Further malformations\/anomalies include congenital heart diseases, foot malformations, sensorineural and\/or conductive hearing impairment, genitourinary malformations, and anomalies of eye and nervous system. Definitive diagnosis for TBS is confirmed by molecular analysis for mutations in the SALL1 gene. Only one known case of TBS with absent pulmonary valve syndrome (APVS) has been previously described to our knowledge. Here, we report a newborn diagnosed with TBS with APVS and tetralogy of Fallot (TOF) who was found to carry the most common pathogenic SALL1 gene mutation c.826C\u2009&gt;\u2009T (p.R276X), with its surgical repair and postoperative follow-up. To our knowledge, this is the first genotyped case of TBS from Turkey to date. TBS should be suspected in the presence of ear, anal, and thumb malformations in a neonate. If a patient with TBS and TOF-APVS needs preoperative ventilation within the first months of life, this implies prolonged postoperative intubation and increased risk of mortality.<\/jats:p>","DOI":"10.1055\/s-0041-1740371","type":"journal-article","created":{"date-parts":[[2021,12,10]],"date-time":"2021-12-10T19:12:19Z","timestamp":1639163539000},"page":"139-143","source":"Crossref","is-referenced-by-count":3,"title":["A Genotyped Case of Townes\u2013Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey"],"prefix":"10.53391","volume":"13","author":[{"given":"Ozkan","family":"Ilhan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neonatology, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evren","family":"Gumus","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nilay","family":"Hakan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neonatology, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hande","family":"Istar","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bugra","family":"Harmandar","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hasim","family":"Olgun","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Department of Pediatrics, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suleyman Cuneyt","family":"Karakus","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nesat","family":"Cullu","sequence":"additional","affiliation":[{"name":"Department of Radiology, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juergen","family":"Kohlhase","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, SYNLAB MVZ Humangenetik Freiburg GmbH, Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James D.","family":"Sutherland","sequence":"additional","affiliation":[{"name":"CIC bioGUNE, Bizkaia Technology Park, Derio, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa","family":"Barrio","sequence":"additional","affiliation":[{"name":"CIC bioGUNE, Bizkaia Technology Park, Derio, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2021,12,10]]},"reference":[{"issue":"02","key":"ref1","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/S0022-3476(72)80302-0","article-title":"Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies","volume":"81","author":"P L Townes","year":"1972","journal-title":"J Pediatr"},{"issue":"01","key":"ref2","first-page":"57","volume":"50","author":"M L Mart\u00ednez-Fr\u00edas","year":"1999","journal-title":"An Esp Pediatr"},{"issue":"01","key":"ref3","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1186\/s12881-017-0483-7","article-title":"Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new 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