{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:28:01Z","timestamp":1791325681902,"version":"4.3.1"},"reference-count":32,"publisher":"National Academy of Sciences","issue":"19","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2013,5,7]]},"abstract":"<jats:p>\n                    X-linked congenital generalized hypertrichosis (Online Mendelian Inheritance in Man 307150) is an extremely rare condition of hair overgrowth on different body sites. We previously reported linkage in a large Mexican family with X-linked congenital generalized hypertrichosis cosegregating with deafness and with dental and palate anomalies to Xq24-27. Using SNP oligonucleotide microarray analysis and whole-genome sequencing, we identified a 389-kb interchromosomal insertion at an extragenic palindrome site at Xq27.1 that completely cosegregates with the disease. Among the genes surrounding the insertion, we found that Fibroblast Growth Factor 13 (\n                    <jats:italic>FGF13<\/jats:italic>\n                    ) mRNA levels were significantly reduced in affected individuals, and immunofluorescence staining revealed a striking decrease in FGF13 localization throughout the outer root sheath of affected hair follicles. Taken together, our findings suggest a role for FGF13 in hair follicle growth and in the hair cycle.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1216412110","type":"journal-article","created":{"date-parts":[[2013,4,19]],"date-time":"2013-04-19T23:34:59Z","timestamp":1366414499000},"page":"7790-7795","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":51,"title":["Position effect on\n                    <i>FGF13<\/i>\n                    associated with X-linked congenital generalized hypertrichosis"],"prefix":"10.1073","volume":"110","author":[{"given":"Gina M.","family":"DeStefano","sequence":"first","affiliation":[{"name":"Departments of aGenetics and Development,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine A.","family":"Fantauzzo","sequence":"additional","affiliation":[{"name":"Departments of aGenetics and Development,"},{"name":"Dermatology,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn","family":"Petukhova","sequence":"additional","affiliation":[{"name":"Dermatology,"},{"name":"Epidemiology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mazen","family":"Kurban","sequence":"additional","affiliation":[{"name":"Dermatology,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marija","family":"Tadin-Strapps","sequence":"additional","affiliation":[{"name":"Departments of aGenetics and Development,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brynn","family":"Levy","sequence":"additional","affiliation":[{"name":"Pathology and Cell Biology, Columbia University, New York, NY;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorothy","family":"Warburton","sequence":"additional","affiliation":[{"name":"Departments of aGenetics and Development,"},{"name":"Department of Pediatrics, Columbia University Medical Center, New York, NY 10032;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth T.","family":"Cirulli","sequence":"additional","affiliation":[{"name":"Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yujun","family":"Han","sequence":"additional","affiliation":[{"name":"Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyun","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics, Columbia Initiative in Systems Biology, Columbia University, New York, NY 10032;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yufeng","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics, Columbia Initiative in Systems Biology, Columbia University, New York, NY 10032;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Shirazi","sequence":"additional","affiliation":[{"name":"Pathology and Cell Biology, Columbia University, New York, NY;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vaidehi","family":"Jobanputra","sequence":"additional","affiliation":[{"name":"Pathology and Cell Biology, Columbia University, New York, NY;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo","family":"Cepeda-Valdes","sequence":"additional","affiliation":[{"name":"Dystrophic Epidermolysis Bullosa Research Association (DebRA), Nuevo Leon 67150, Mexico; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julio","family":"Cesar Salas-Alanis","sequence":"additional","affiliation":[{"name":"Dystrophic Epidermolysis Bullosa Research Association (DebRA), Nuevo Leon 67150, Mexico; and"},{"name":"Basic Science, Universidad de Monterrey, Nueva Leon 63238, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela M.","family":"Christiano","sequence":"additional","affiliation":[{"name":"Departments of aGenetics and Development,"},{"name":"Dermatology,"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2013,4,19]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1970.04000060041010"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610501.x"},{"key":"e_1_3_3_3_2","first-page":"141","article-title":"On atavisms and atavistic genes","volume":"28","author":"Cant\u00fa JM","year":"1985","unstructured":"JM Cant\u00fa, C Ruiz, On atavisms and atavistic genes. 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