{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T11:54:22Z","timestamp":1787313262834,"version":"build-2736575974"},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2021,1,29]],"date-time":"2021-01-29T00:00:00Z","timestamp":1611878400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The clinical manifestations of FGFR3 sequence variations can vary from mild unnoticed short stature to neonatal lethal dwarfism and can be causative of phenotypes including achondroplasia, hypochondroplasia, and thanatophoric dysplasia. Clinical data describe an 11 month old girl with restricted growth and preserved intellect. She had rhizomelic short stature with peculiar facies but no Acanthosis nigricans. In view of the absence of the hotspot mutation c.1138 G&amp;gt;A\/G&amp;gt;C (p.Gly380Arg), complete gene sequencing was done that revealed a rare sequence variation, NM_000142.4:c.1043C&amp;gt;G (p.Ser348Cys) in FGFR3. This sequence variation has not been reported from India so far. This report emphasizes the benefit of sequencing the whole gene in individuals who are negative for hotspot mutation of achondroplasia with strong clinical suspicion.<\/jats:p>","DOI":"10.1093\/labmed\/lmaa116","type":"journal-article","created":{"date-parts":[[2020,12,8]],"date-time":"2020-12-08T17:41:12Z","timestamp":1607449272000},"page":"499-502","source":"Crossref","is-referenced-by-count":4,"title":["Achondroplasia\u2014First Report from India of a Rare\n                    <i>FGFR3<\/i>\n                    Gene Variant"],"prefix":"10.1093","volume":"52","author":[{"given":"Chakshu","family":"Chaudhry","sequence":"first","affiliation":[{"name":"Genetic Metabolic Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research , Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prabakaran","family":"G","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research , Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priyanka","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research , Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reena","family":"Das","sequence":"additional","affiliation":[{"name":"Department of Hematology, Post Graduate Institute of Medical Education and Research , Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasbir","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Hematology, Post Graduate Institute of Medical Education and Research , Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inusha","family":"Panigrahi","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research , Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anupriya","family":"Kaur","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research , Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,1,29]]},"reference":[{"key":"2023020517410027400_CIT0001","article-title":"p.Ser348Cys mutation in FGFR3 gene leads to \u201cmild ACH \/severe HCH\u201d phenotype","volume":"63:103659","author":"Bengur","year":"2020","journal-title":"Eur J Med Genet."},{"issue":"4","key":"2023020517410027400_CIT0002","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1002\/ajmg.a.38141","article-title":"Mild achondroplasia\/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation","volume":"173","author":"Couser","year":"2017","journal-title":"Am J Med Genet A."},{"issue":"5","key":"2023020517410027400_CIT0003","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1002\/ajmg.a.37557","article-title":"A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia","volume":"170A","author":"Hasegawa","year":"2016","journal-title":"Am J Med Genet A."},{"key":"2023020517410027400_CIT0004","article-title":"Mutation analysis of the fibroblast growth factor receptor 3 gene in fetuses with thanatophoric dysplasia, type I","author":"Wu","year":"2020","journal-title":"Clin Exp Obstet Gynecol."},{"issue":"6","key":"2023020517410027400_CIT0005","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1111\/j.1469-8749.2012.04234.x","article-title":"Development in children with achondroplasia: a prospective clinical cohort study","volume":"54","author":"Ireland","year":"2012","journal-title":"Dev Med Child Neurol."},{"issue":"3","key":"2023020517410027400_CIT0006","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1007\/BF00210413","article-title":"Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients","volume":"96","author":"Ikegawa","year":"1995","journal-title":"Hum Genet."},{"issue":"12","key":"2023020517410027400_CIT0007","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1038\/sj.ejhg.5201700","article-title":"Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia","volume":"14","author":"Heuertz","year":"2006","journal-title":"Eur J Hum Genet."},{"issue":"11","key":"2023020517410027400_CIT0008","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1097\/00029330-200706010-00015","article-title":"Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia","volume":"120","author":"Zhang","year":"2007","journal-title":"Chin Med J (Engl)."},{"issue":"11","key":"2023020517410027400_CIT0009","doi-asserted-by":"crossref","first-page":"2851","DOI":"10.1002\/ajmg.a.37231","article-title":"A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly","volume":"167A","author":"Takagi","year":"2015","journal-title":"Am J Med Genet A."},{"key":"2023020517410027400_CIT0010","first-page":"233\u2013237","article-title":"Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia","author":"Naski","year":"1996;13","journal-title":"Nat Genet."},{"key":"2023020517410027400_CIT0011","first-page":"2630\u20132636","article-title":"Acanthosis nigricans in achondroplasia","author":"Smid","year":"2018;176(12)","journal-title":"Am J Med Genet."}],"container-title":["Laboratory 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