{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T14:55:09Z","timestamp":1790434509789,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,2,9]],"date-time":"2017-02-09T00:00:00Z","timestamp":1486598400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Pathogenic allelic variants in the fibroblast growth factor receptor 3 (\n                      <jats:italic>FGFR3<\/jats:italic>\n                      ) gene have been associated with a number of phenotypes including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Crouzon syndrome with acanthosis nigricans (Crouzonodermoskeletal syndrome), and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans). Crouzon syndrome with acanthosis nigricans is caused by the pathogenic variant c.1172C&gt;A (p.Ala391Glu) in the\n                      <jats:italic>FGFR3<\/jats:italic>\n                      gene. The p.Lys650Thr pathogenic variant in\n                      <jats:italic>FGFR3<\/jats:italic>\n                      has been linked to acanthosis nigricans without significant craniofacial or skeletal abnormalities. Recently, an infant with achondroplasia and a novel p.Ser348Cys\n                      <jats:italic>FGFR3<\/jats:italic>\n                      mutation was reported. We describe the clinical history of an 8\u2010year\u2010old child with a skeletal dysplasia in the achondroplasia\u2010hypochondroplasia spectrum, acanthosis nigricans, typical development, and the recently described p.Ser348Cys FGFR3 mutation.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.38141","type":"journal-article","created":{"date-parts":[[2017,2,9]],"date-time":"2017-02-09T03:18:18Z","timestamp":1486610298000},"page":"1097-1101","source":"Crossref","is-referenced-by-count":14,"title":["Mild achondroplasia\/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys\n                    <i>FGFR3<\/i>\n                    mutation"],"prefix":"10.1002","volume":"173","author":[{"given":"Natario L.","family":"Couser","sequence":"first","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of North Carolina School of Medicine Chapel Hill North Carolina"},{"name":"Department of Ophthalmology University of North Carolina School of Medicine Chapel Hill North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chetna K.","family":"Pande","sequence":"additional","affiliation":[{"name":"Texas Tech Health Sciences Center Paul L. Foster School of Medicine El Paso Texas"},{"name":"Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christie M.","family":"Turcott","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of North Carolina School of Medicine Chapel Hill North Carolina"},{"name":"Waisman Center University of Wisconsin\u2010Madison Madison Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine B.","family":"Spector","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Denver Genetic Laboratories University of Colorado School of Medicine Aurora Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur S.","family":"Aylsworth","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of North Carolina School of Medicine Chapel Hill North Carolina"},{"name":"Department of Genetics University of North Carolina School of Medicine Chapel Hill North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia M.","family":"Powell","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of North Carolina School of Medicine Chapel Hill North Carolina"},{"name":"Department of Genetics University of North Carolina School of Medicine Chapel Hill North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,2,9]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"368","article-title":"Achondroplasia is defined by recurrent G380R mutations of FGFR3","volume":"56","author":"Bellus G. 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