{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T19:08:57Z","timestamp":1789412937692,"version":"build-2803163510"},"reference-count":20,"publisher":"Korean Society of Pediatric Endocrinology","issue":"3","license":[{"start":{"date-parts":[[2021,5,12]],"date-time":"2021-05-12T00:00:00Z","timestamp":1620777600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["e-apem.org"],"crossmark-restriction":true},"short-container-title":["Ann Pediatr Endocrinol Metab"],"published-print":{"date-parts":[[2021,9,30]]},"abstract":"<jats:p>Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. Early diagnosis of MS is difficult because its features progress and become noticeable at school age. Recently, the SMAD4 gene was identified as the major gene responsible for MS. Herein, we report the first Korean case of MS after identification of a SMAD4 mutation by clinical exome sequencing. The patient was born small for gestational age, and she had the typical clinical features of MS, including short stature, characteristic facial appearance, developmental delay, and selective mutism. She was diagnosed with central precocious puberty. Because of the patient\u2019s precocious puberty and short stature, we administered combined recombinant human growth hormone and gonadotropin-releasing hormone agonist treatments, which resulted in improved height. While there have been 79 cases of MS reported worldwide, to our knowledge, this is the first case of genetically-confirmed MS in Korea.<\/jats:p>","DOI":"10.6065\/apem.2040214.107","type":"journal-article","created":{"date-parts":[[2021,5,12]],"date-time":"2021-05-12T13:31:49Z","timestamp":1620826309000},"page":"210-214","update-policy":"https:\/\/doi.org\/10.6065\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Myhre syndrome: the first case in Korea"],"prefix":"10.6065","volume":"26","author":[{"given":"Dongjin","family":"Lim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jae Hyun","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9776-4204","authenticated-orcid":true,"given":"Jieun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4096","reference":[{"key":"ref1","first-page":"1835","volume-title":"Novel SMAD4 mutation causing Myhre syndrome","author":"Caputo","year":"2014"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12365"},{"key":"ref3","volume-title":"","author":"Starr","year":"1993"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-016-2761-3"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2019.10.006"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111\/ped.13413"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38560"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.7.546"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/eye.1999.226"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.00072"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1016"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.08-3223"},{"key":"ref14","first-page":"461","volume-title":"Targeting TGF-beta mediated SMAD signaling for the prevention of fibrosis Front Pharmacol","author":"Walton","year":"2017"},{"key":"ref15","first-page":"2617","volume-title":"Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome","author":"Lin","year":"2016"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.288"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4589"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.07.001"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201905-0922im"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1097\/mcd.0000000000000271"}],"container-title":["Annals of Pediatric Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/e-apem.org\/upload\/pdf\/apem-2040214-107.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/e-apem.org\/journal\/view.php?doi=10.6065\/apem.2040214.107","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/e-apem.org\/upload\/pdf\/apem-2040214-107.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,29]],"date-time":"2021-09-29T01:13:32Z","timestamp":1632878012000},"score":1,"resource":{"primary":{"URL":"http:\/\/e-apem.org\/journal\/view.php?doi=10.6065\/apem.2040214.107"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,30]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,9]]}},"URL":"https:\/\/doi.org\/10.6065\/apem.2040214.107","relation":{},"ISSN":["2287-1012","2287-1292"],"issn-type":[{"value":"2287-1012","type":"print"},{"value":"2287-1292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,30]]},"assertion":[{"value":"2020-09-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-12","order":2,"name":"published","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-30","order":3,"name":"published","label":"Print publication","group":{"name":"publication_history","label":"Publication History"}}]}}