{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T13:56:34Z","timestamp":1779890194680,"version":"3.53.1"},"reference-count":55,"publisher":"BMJ","issue":"11","license":[{"start":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T00:00:00Z","timestamp":1754956800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100019274","name":"Ramathibodi Foundation","doi-asserted-by":"publisher","award":["Not applicable"],"award-info":[{"award-number":["Not applicable"]}],"id":[{"id":"10.13039\/501100019274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007959","name":"Chulabhorn Research Institute","doi-asserted-by":"publisher","award":["49893\/4759807"],"award-info":[{"award-number":["49893\/4759807"]}],"id":[{"id":"10.13039\/501100007959","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2025,7,29]]},"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Duplication of the pituitary gland (DPG)-plus syndrome is an extremely rare developmental malformation of unknown aetiology.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Two unreported patients of DPG-plus syndrome are described. Underlying genetic defects were explored, including chromosomal microarray (CMA), whole exome sequencing (WES) and mRNA analysis. A literature review was presented.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Patient 1 had DPG, palatal cleft, bifid tongue, intraoral teratoma, lingual hamartoma and duplicated basilar artery and odontoid process. Patient 2 had DPG, epignathus teratoma, a nasal mass, choanal atresia, cleft palate, bifid tongue, abnormal basilar artery and fused upper cervical spine. CMA yielded normal results. WES of patient 1 disclosed a novel splice site\n                      <jats:italic>PTCH2<\/jats:italic>\n                      variant, c.1590+1G&gt;A, leading to exon 12 skipping and an in-frame deletion of 44 amino acids. WES of patient 2 revealed no candidate variants. A literature review of 51 cases showed mostly reported in childhood and female sex (80%). The leading anomalies identified included DPG (100%), cleft palate (68.6%), anomalous cervical spine (56.9%), hypothalamic mass\/enlargement (58.8%), intraoral teratoma (58.8%), basilar arterial abnormalities (43.1%) and bifid\/trifid tongue (23.5%). Non-craniofacial anomalies were found in &lt;10% of cases. Late complications included precocious puberty, all in female patients, and hypogonadotropic hypogonadism in a few patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Two new cases of DPG-plus syndrome were reported, with rare findings of epignathus and choanal atresia. We propose that DPG-plus syndrome may result from a double hit in one of the genes involved in\n                      <jats:italic>SHH<\/jats:italic>\n                      signalling, arising from a germline pathogenic variant with mosaicism for a somatic pathogenic variant or digenic\/oligogenic inheritance of the\n                      <jats:italic>SHH<\/jats:italic>\n                      signalling-related genes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg-2024-110417","type":"journal-article","created":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T07:35:27Z","timestamp":1755070527000},"page":"726-733","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["New patients with duplication of the pituitary gland\u2013plus syndrome, including a\n                    <i>PTCH2<\/i>\n                    variant and a literature review"],"prefix":"10.1136","volume":"62","author":[{"given":"Kochakorn","family":"Buasri","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pattima","family":"Pakhathirathien","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Prince of Songkla University, Hat Yai, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thiparom","family":"Sananmuang","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Therapeutic Radiology, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarayuth","family":"Dumrongwongsiri","sequence":"additional","affiliation":[{"name":"Department of Surgery, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anucha","family":"Thatrimontrichai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Prince of Songkla University, Hat Yai, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gunlawadee","family":"Maneenil","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Prince of Songkla University, Hat Yai, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthaporn","family":"Khongkraparn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lukana","family":"Ngiwsara","sequence":"additional","affiliation":[{"name":"Chulabhorn Research Institute, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phannee","family":"Sawangareetrakul","sequence":"additional","affiliation":[{"name":"Chulabhorn Research Institute, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jisnuson","family":"Svasti","sequence":"additional","affiliation":[{"name":"Chulabhorn Research Institute, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Cincinnati Children\u2019s Hospital Medical Center Division of Human Genetics, Cincinnati, Ohio, USA"},{"name":"University of Cincinnati, Cincinnati, Ohio, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2329-2176","authenticated-orcid":false,"given":"Duangrurdee","family":"Wattanasirichaigoon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,8,12]]},"reference":[{"key":"2025102806151065000_62.11.726.1","doi-asserted-by":"crossref","first-page":"574","DOI":"10.3390\/brainsci12050574","article-title":"Duplication of the Pituitary Gland: CT, MRI and DTI Findings and Updated Review of the Literature","volume":"12","author":"Serrallach","year":"2022","journal-title":"Brain Sci"},{"key":"2025102806151065000_62.11.726.2","unstructured":"F. 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