{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T22:14:12Z","timestamp":1759702452507,"version":"3.37.3"},"reference-count":30,"publisher":"FapUNIFESP (SciELO)","issue":"10","license":[{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev. Assoc. Med. Bras."],"DOI":"10.1590\/1806-9282.20210666","type":"journal-article","created":{"date-parts":[[2021,11,26]],"date-time":"2021-11-26T12:17:07Z","timestamp":1637929027000},"page":"1508-1514","source":"Crossref","is-referenced-by-count":4,"title":["A review of genetic syndromes associated with hypertrichosis"],"prefix":"10.1590","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7115-8196","authenticated-orcid":false,"given":"Vin\u00edcius Figueiredo","family":"Carneiro","sequence":"first","affiliation":[{"name":"Universidade Estadual de Montes Claros,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6237-9672","authenticated-orcid":false,"given":"Mauro Costa","family":"Barbosa","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Montes Claros,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3979-7497","authenticated-orcid":false,"given":"Daniella Reis B.","family":"Martelli","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Montes Claros,  Brazil; Universidade Estadual de Montes Claros,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4449-4343","authenticated-orcid":false,"given":"Paulo Rog\u00e9rio","family":"Bonan","sequence":"additional","affiliation":[{"name":"Universidade Federal de Alfenas,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0497-5262","authenticated-orcid":false,"given":"Marcos Jos\u00e9 Burle","family":"Aguiar","sequence":"additional","affiliation":[{"name":"Universidade Federal de Minas Gerais,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9691-2802","authenticated-orcid":false,"given":"Herc\u00edlio","family":"Martelli J\u00fanior","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Montes Claros,  Brazil; Universidade Estadual de Montes Claros,  Brazil; Universidade Federal de Alfenas,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","published-online":{"date-parts":[[2021,10]]},"reference":[{"issue":"2","key":"ref1","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1067\/mjd.2003.100","article-title":"Hypertrichosis","volume":"48","author":"Wendelin DS","year":"2003","journal-title":"J Am Acad Dermatol"},{"issue":"5","key":"ref2","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1034\/j.1399-0004.2002.610501.x","article-title":"Inherited hypertrichoses","volume":"61","author":"Garcia-Cruz D","year":"2002","journal-title":"Clin Genet"},{"issue":"10","key":"ref3","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1515\/JPEM.2005.18.10.1019","article-title":"Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome","volume":"18","author":"Polizzi A","year":"2005","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"1","key":"ref4","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1152\/physrev.2001.81.1.449","article-title":"Controls of hair follicle cycling","volume":"81","author":"Stenn KS","year":"2001","journal-title":"Physiol Rev"},{"issue":"2","key":"ref5","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1590\/0004-2730000002923","article-title":"Hirsutism: diagnosis and treatment","volume":"58","author":"Hohl A","year":"2014","journal-title":"Arq Bras Endocrinol Metabol"},{"issue":"24","key":"ref6","first-page":"2578","article-title":"Clinical practice","volume":"353","author":"Rosenfield RL","year":"2005","journal-title":"Hirsutism. N Engl J Med"},{"issue":"3","key":"ref7","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1055\/s-0035-1564442","article-title":"Intellectual disability: when the hypertrichosis is a clue","volume":"4","author":"Pezzani L","year":"2015","journal-title":"J Pediatr Genet"},{"issue":"140","key":"ref8","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1183\/16000617.0017-2016","article-title":"Why we should care about ultra-rare disease","volume":"25","author":"Harari S","year":"2016","journal-title":"Eur Respir Rev"},{"issue":"1","key":"ref9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1365-2796.2006.01666.x","article-title":"A journey of hope: lessons learned from studies on rare diseases and orphan drugs","volume":"260","author":"W\u00e4stfelt M","year":"2006","journal-title":"J Intern Med"},{"issue":"2","key":"ref10","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.oooo.2020.04.011","article-title":"Undiagnosed and rare diseases: current challenges, perspectives and contribution of oral cavity examination","volume":"130","author":"Martelli DRB","year":"2020","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol"},{"issue":"5","key":"ref11","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1001\/jamadermatol.2015.4846","article-title":"Dermatologic marvels-hypertrichosis","volume":"152","author":"Maranda EL","year":"2016","journal-title":"JAMA Dermatol"},{"issue":"2","key":"ref12","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1002\/ajmg.1320470213","article-title":"Julia Pastrana, the nondescript: an example of congenital, generalized hypertrichosis terminalis with gingival hyperplasia","volume":"47","author":"Bondeson J","year":"1993","journal-title":"Am J Med Genet"},{"issue":"4","key":"ref13","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1002\/ajmg.c.31662","article-title":"The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM\u00ae","volume":"178","author":"Hartley T","year":"2018","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"6","key":"ref14","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1016\/j.jval.2015.05.008","article-title":"Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group","volume":"18","author":"Richter T","year":"2015","journal-title":"Value Health"},{"year":"2020","series-title":"Doen\u00e7as raras","key":"ref15"},{"issue":"6","key":"ref16","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1016\/j.oooo.2019.07.002","article-title":"In reply to: Alawi F. \u201cUsing rare diseases as teaching models to increase awareness\u201d","volume":"128","author":"Martelli J\u00fanior H","year":"2019","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol"},{"issue":"6","key":"ref17","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1001\/archdermatol.2011.137","article-title":"Congenital hypertrichosis lanuginosa in a father and son","volume":"147","author":"De Raeve L","year":"2011","journal-title":"Arch Dermatol"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1186\/s13052-015-0161-3","article-title":"Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes","volume":"41","author":"Pavone P","year":"2015","journal-title":"Ital J Pediatr"},{"issue":"2","key":"ref19","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1055\/s-2007-985135","article-title":"When neuropediatrics meets odontology","volume":"38","author":"Bloch-Zupan A","year":"2007","journal-title":"Neuropediatrics"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1146\/annurev-genom-090314-045904","article-title":"Advances in skeletal dysplasia genetics","volume":"16","author":"Geister KA","year":"2015","journal-title":"Annu Rev Genomics Hum Genet"},{"issue":"1","key":"ref21","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1038\/nrg3999","article-title":"Genetic studies in intellectual disability and related disorders","volume":"17","author":"Vissers LE","year":"2016","journal-title":"Nat Rev Genet"},{"issue":"9","key":"ref22","doi-asserted-by":"crossref","first-page":"2229","DOI":"10.1038\/jid.2013.70","article-title":"Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS","volume":"133","author":"Kinsler VA","year":"2013","journal-title":"J Invest Dermatol"},{"issue":"6","key":"ref23","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1136\/jmg.2009.071142","article-title":"A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus","volume":"47","author":"Zollino M","year":"2010","journal-title":"J Med Genet"},{"issue":"5Spec","key":"ref24","doi-asserted-by":"crossref","first-page":"1457","DOI":"10.1093\/hmg\/5.Supplement_1.1457","article-title":"Molecular genetics of Bloom's syndrome","author":"Ellis NA","year":"1996","journal-title":"Hum Mol Genet"},{"issue":"6","key":"ref25","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/ng.581","article-title":"De novo mutations of SETBP1 cause Schinzel-Giedion syndrome","volume":"42","author":"Hoischen A","year":"2010","journal-title":"Nat Genet"},{"issue":"9","key":"ref26","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1038\/sj.ejhg.5201594","article-title":"Rubinstein-Taybi syndrome","volume":"14","author":"Hennekam RCM","year":"2006","journal-title":"Eur J Hum Genet"},{"issue":"8","key":"ref27","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1038\/ng.868","article-title":"De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome","volume":"43","author":"Hoischen A","year":"2011","journal-title":"Nat Genet"},{"issue":"4","key":"ref28","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1111\/j.1651-2227.1982.tb09496.x","article-title":"Insulin resistance in a child with Acanthosis nigricans type A","volume":"71","author":"Mariani S","year":"1982","journal-title":"Acta Paediatr Scand"},{"issue":"4","key":"ref29","first-page":"221","article-title":"A rare polydysmorphic syndrome: leprechaunism \u2500 review of forty-nine cases reported in the literature","volume":"30","author":"Cantani A","year":"1987","journal-title":"Ann Genet"},{"issue":"12","key":"ref30","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1056\/NEJMra025261","article-title":"Acquired and inherited lipodystrophies","volume":"350","author":"Garg A","year":"2004","journal-title":"N Engl J Med"}],"container-title":["Revista da Associa\u00e7\u00e3o M\u00e9dica Brasileira"],"original-title":[],"deposited":{"date-parts":[[2021,11,26]],"date-time":"2021-11-26T12:17:24Z","timestamp":1637929044000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0104-42302021001101508&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10]]},"references-count":30,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2021,10]]}},"alternative-id":["S0104-42302021001101508"],"URL":"https:\/\/doi.org\/10.1590\/1806-9282.20210666","relation":{},"ISSN":["1806-9282","0104-4230"],"issn-type":[{"type":"electronic","value":"1806-9282"},{"type":"print","value":"0104-4230"}],"subject":[],"published":{"date-parts":[[2021,10]]}}}