{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T21:22:52Z","timestamp":1787692972301,"version":"build-2784847793"},"reference-count":15,"publisher":"Wiley","license":[{"start":{"date-parts":[[2018,11,28]],"date-time":"2018-11-28T00:00:00Z","timestamp":1543363200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Endocrinology"],"published-print":{"date-parts":[[2018,11,28]]},"abstract":"<jats:p>Endochondral ossification at the level of the growth plate, an essential process involved in longitudinal growth, is regulated by hormonal and local factors including C-type natriuretic peptide and its receptor, natriuretic peptide receptor B. Biallelic loss-of-function mutations in the<jats:italic> NPR2 <\/jats:italic>gene, which encodes this receptor, cause acromesomelic dysplasia, Maroteaux type (AMDM), a skeletal dysplasia characterized by severe short stature and disproportionate shortening of limbs. Heterozygous<jats:italic> NPR2 <\/jats:italic>mutations have been reported in patients previously classified with idiopathic short stature (ISS). We report the presentation of a 7-year-old girl and her mother with short stature, both of whom were identified with the same<jats:italic> NPR2 <\/jats:italic>mutation, and who demonstrated clinical and radiological features consistent with a skeletal dysplasia. We also report the patient\u2019s response to recombinant human growth hormone (rhGH) over a 2-year period. We encourage clinicians who evaluate children with ISS to consider genetic testing, particularly when the presentation is associated with features suggestive of a skeletal dysplasia.<\/jats:p>","DOI":"10.1155\/2018\/7658496","type":"journal-article","created":{"date-parts":[[2018,11,28]],"date-time":"2018-11-28T18:30:55Z","timestamp":1543429855000},"page":"1-4","source":"Crossref","is-referenced-by-count":4,"title":["Heterozygous<i> NPR2<\/i> Mutation in Two Family Members with Short Stature and Skeletal Dysplasia"],"prefix":"10.1155","volume":"2018","author":[{"given":"Marianne","family":"Jacob","sequence":"first","affiliation":[{"name":"Rutgers-Robert Wood Johnson Medical School, Department of Pediatrics, 1 Robert Wood Johnson Place, New Brunswick, NJ 08901, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Surabhi","family":"Menon","sequence":"additional","affiliation":[{"name":"Rutgers-Robert Wood Johnson Medical School, 675 Hoes Lane W, Piscataway Township, NJ 08854, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Botti","sequence":"additional","affiliation":[{"name":"Rutgers-Robert Wood Johnson Medical School, Division of Pediatric Genetics, 1 Robert Wood Johnson Place, New Brunswick, NJ 08901, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7778-4331","authenticated-orcid":true,"given":"Ian","family":"Marshall","sequence":"additional","affiliation":[{"name":"Rutgers-Robert Wood Johnson Medical School, Division of Pediatric Endocrinology, 1 Robert Wood Johnson Place, New Brunswick, NJ 08901, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.3970"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2014-0450"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.6065\/apem.2017.22.3.153"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1159\/000365049"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22773"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-3525"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1086\/422013"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1086\/301917"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-1949"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-2142"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-1612"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37463"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-3460"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1159\/000444596"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2016-0280"}],"container-title":["Case Reports in Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crie\/2018\/7658496.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crie\/2018\/7658496.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crie\/2018\/7658496.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,11,28]],"date-time":"2018-11-28T18:30:59Z","timestamp":1543429859000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crie\/2018\/7658496\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11,28]]},"references-count":15,"alternative-id":["7658496","7658496"],"URL":"https:\/\/doi.org\/10.1155\/2018\/7658496","relation":{},"ISSN":["2090-6501","2090-651X"],"issn-type":[{"value":"2090-6501","type":"print"},{"value":"2090-651X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,11,28]]}}}