{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:22:05Z","timestamp":1747146125474,"version":"3.40.5"},"reference-count":5,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,5,11]],"date-time":"2019-05-11T00:00:00Z","timestamp":1557532800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Acromesomelic dysplasias are rare skeletal disorders leading to severe short stature and abnormal skeletal morphology. Acromesomelic dysplasia Maroteaux\u2010type is caused by homozygous or compound heterozygous pathogenic variants in <jats:italic>NPR2<\/jats:italic> that encodes for natriuretic peptide receptor B. Here, we reported the first AMDM case in South East Asia and identified a novel pathogenic variant in <jats:italic>NPR2<\/jats:italic> (c. 152T&gt;C, p. (Leu51Pro)). Further analyses reveal the parents and two other family members were heterozygous for the variant. The clinical report highlights the importance of molecular genetic testing in diagnosing rare hereditable disease affecting skeletal abnormalities.<\/jats:p>","DOI":"10.1002\/ajmg.a.61192","type":"journal-article","created":{"date-parts":[[2019,5,11]],"date-time":"2019-05-11T13:24:04Z","timestamp":1557581044000},"page":"1420-1422","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Acromesomelic dysplasia Maroteaux\u2010type in patients from Vietnam"],"prefix":"10.1002","volume":"179","author":[{"given":"Thinh Huy","family":"Tran","sequence":"first","affiliation":[{"name":"Center for Gene and Protein Research Hanoi Medical University  Hanoi Vietnam"},{"name":"Department of Biochemistry Hanoi Medical University Hospital  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"My Ha","family":"Cao","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research Hanoi Medical University  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Long Hoang","family":"Luong","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research Hanoi Medical University  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phuong Thi","family":"Le","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research Hanoi Medical University  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dung Chi","family":"Vu","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research Hanoi Medical University  Hanoi Vietnam"},{"name":"Department of Endocrinology and Genetic Disorders Vietnam National Children Hospital  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thanh Dat","family":"Ta","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research Hanoi Medical University  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"The\u2010Hung","family":"Bui","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research Hanoi Medical University  Hanoi Vietnam"},{"name":"Center for Molecular Medicine, Clinical Genetics Unit Karolinska Institutet, Karolinska University Hospital  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Duc Hinh","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research Hanoi Medical University  Hanoi Vietnam"},{"name":"Department of Biochemistry Hanoi Medical University Hospital  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thanh","family":"Van Ta","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research Hanoi Medical University  Hanoi Vietnam"},{"name":"Department of Biochemistry Hanoi Medical University Hospital  Hanoi 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