{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T06:41:32Z","timestamp":1792219292616,"version":"4.4.0"},"reference-count":14,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T00:00:00Z","timestamp":1792108800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T00:00:00Z","timestamp":1792108800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    C\u2010type natriuretic peptide (CNP) increases chondrocyte maturation and growth of long bones by acting on its receptor NPR\u2010B. Increased activity of CNP and NPR\u2010B has been reported to cause tall stature while decreased activity of NPR\u2010B causes short stature. Monoallelic loss\u2010of\u2010function variants in\n                    <jats:italic>NPPC<\/jats:italic>\n                    , which codes for CNP, have been reported in patients with idiopathic short stature. We report a patient with acromesomelic type of short stature due to biallelic missense variants in\n                    <jats:italic>NPPC<\/jats:italic>\n                    which codes for CNP.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70331","type":"journal-article","created":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T06:00:31Z","timestamp":1792216831000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["First Report of Biallelic\n                    <scp>\n                      <i>NPPC<\/i>\n                    <\/scp>\n                    Variants Causing Acromesomelic Type of Short Stature"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3286-0107","authenticated-orcid":false,"given":"Deepak","family":"Amalnath","sequence":"first","affiliation":[{"name":"Department of Medicine Jawaharlal Institute of Postgraduate Medical Education &amp; Research (JIPMER)  Puducherry India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7504-4492","authenticated-orcid":false,"given":"Shreya","family":"Rajagopal","sequence":"additional","affiliation":[{"name":"Department of Medicine Jawaharlal Institute of Postgraduate Medical Education &amp; Research (JIPMER)  Puducherry India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chandan","family":"Akkadka","sequence":"additional","affiliation":[{"name":"Department of Medicine Jawaharlal Institute of Postgraduate Medical Education &amp; Research (JIPMER)  Puducherry India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,16]]},"reference":[{"issue":"9","key":"e_1_2_10_2_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2018.10.006","article-title":"Novel Variants in Natriuretic Peptide Receptor 2 in Unrelated Patients With Acromesomelic Dysplasia Type Maroteaux","volume":"62","author":"Ain N. U.","year":"2019","journal-title":"European Journal of Medical Genetics"},{"key":"e_1_2_10_3_1","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1086\/422013","article-title":"Mutations in the Transmembrane Natriuretic Peptide Receptor NPR\u2010B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux","volume":"75","author":"Bartels C. F.","year":"2004","journal-title":"American Journal of Human Genetics"},{"issue":"7","key":"e_1_2_10_4_1","doi-asserted-by":"crossref","first-page":"4016","DOI":"10.1073\/pnas.071389098","article-title":"Dwarfism and Early Death in Mice Lacking C\u2010Type Natriuretic Peptide","volume":"98","author":"Chusho H.","year":"2001","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"issue":"9","key":"e_1_2_10_5_1","doi-asserted-by":"crossref","first-page":"2416","DOI":"10.1210\/clinem\/dgag157","article-title":"A Phase II Basket Trial of Vosoritide in Children With RASopathies, ACAN, and NPR2 Deficiency","volume":"111","author":"Dauber A.","year":"2026","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"issue":"3","key":"e_1_2_10_6_1","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1016\/S0006-291X(05)80284-0","article-title":"Structural Requirements of C\u2010Type Natriuretic Peptide for Elevation of Cyclic GMP in Cultured Vascular Smooth Muscle Cells","volume":"183","author":"Furuya M.","year":"1992","journal-title":"Biochemical and Biophysical Research Communications"},{"issue":"8","key":"e_1_2_10_7_1","doi-asserted-by":"crossref","first-page":"E1133","DOI":"10.1210\/jc.2015-1612","article-title":"Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to L\u00e9ri\u2010Weill Dyschondrosteosis","volume":"100","author":"Hisado\u2010Oliva A.","year":"2015","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"issue":"1","key":"e_1_2_10_8_1","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1038\/gim.2017.66","article-title":"Mutations in C\u2010Natriuretic Peptide (NPPC): A Novel Cause of Autosomal Dominant Short Stature","volume":"20","author":"Hisado\u2010Oliva A.","year":"2018","journal-title":"Genetics in Medicine"},{"issue":"5","key":"e_1_2_10_9_1","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1056\/NEJM199807303390507","article-title":"Natriuretic Peptides","volume":"339","author":"Levin E. R.","year":"1998","journal-title":"New England Journal of Medicine"},{"issue":"1","key":"e_1_2_10_10_1","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1002\/ajmg.a.36218","article-title":"Overgrowth Syndrome Associated With a Gain\u2010Of\u2010Function Mutation of the Natriuretic Peptide Receptor 2 (NPR2) Gene","volume":"164","author":"Miura K.","year":"2014","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"12","key":"e_1_2_10_11_1","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1002\/humu.20611","article-title":"A Cluster of Translocation Breakpoints in 2q37 Is Associated With Overexpression of NPPC in Patients With a Similar Overgrowth Phenotype","volume":"28","author":"Moncla A.","year":"2007","journal-title":"Human Mutation"},{"issue":"3","key":"e_1_2_10_12_1","article-title":"NPR2 Variants Are Frequent Among Children With Familiar Short Stature and Respond Well to Growth Hormone Therapy","volume":"105","author":"Plachy L.","year":"2020","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"e_1_2_10_13_1","first-page":"341","volume-title":"Handbook of Experimental Pharmacology","author":"Potter L. R.","year":"2009"},{"issue":"3","key":"e_1_2_10_14_1","first-page":"348","article-title":"Once\u2010Weekly Navepegritide in Children With Achondroplasia: The APPROACH Randomized Clinical Trial","volume":"180","author":"Savarirayan R.","year":"2026","journal-title":"JAMA Pediatrics"},{"issue":"4","key":"e_1_2_10_15_1","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1007\/s12041-016-0715-1","article-title":"Novel Mutations in the Transmembrane Natriuretic Peptide Receptor NPR\u2010B Gene in Four Indian Families With Acromesomelic Dysplasia, Type Maroteaux","volume":"95","author":"Srivastava P.","year":"2016","journal-title":"Journal of Genetics"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70331","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70331","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70331","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T06:00:34Z","timestamp":1792216834000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70331"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,16]]},"references-count":14,"alternative-id":["10.1002\/ajmg.a.70331"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70331","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,16]]},"assertion":[{"value":"2026-07-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-07","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-16","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"ajmg.a.70331"}}