{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T18:36:07Z","timestamp":1784140567922,"version":"3.55.0"},"reference-count":34,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2014,7,14]],"date-time":"2014-07-14T00:00:00Z","timestamp":1405296000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"United States National Human Genome Research Institute\/National Heart Blood and Lung Institute","award":["U54HG006542"],"award-info":[{"award-number":["U54HG006542"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>GAPO syndrome (OMIM#230740) is the acronym for growth retardation, alopecia, pseudoanodontia, and optic atrophy. About 35 cases have been reported, making it among one of the rarest recessive conditions. Distinctive craniofacial features including alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, mid\u2010facial hypoplasia, hypertelorism, and thickened eyelids and lips make GAPO syndrome a clinically recognizable phenotype. While this genomic study was in progress mutations in <jats:italic>ANTXR1<\/jats:italic> were reported to cause GAPO syndrome. In our study we performed whole exome sequencing (WES) for five affected individuals from three Turkish kindreds segregating the GAPO trait. Exome sequencing analysis identified three novel homozygous mutations including; one frame\u2010shift (c.1220_1221insT; p.Ala408Cysfs*2), one splice site (c.411A&gt;G; p.Gln137Gln), and one non\u2010synonymous (c.1150G&gt;A; p.Gly384Ser) mutation in the <jats:italic>ANTXR1<\/jats:italic> gene. Our studies expand the allelic spectrum in this rare condition and potentially provide insight into the role of ANTXR1 in the regulation of the extracellular matrix. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36678","type":"journal-article","created":{"date-parts":[[2014,7,15]],"date-time":"2014-07-15T17:57:53Z","timestamp":1405447073000},"page":"2328-2334","source":"Crossref","is-referenced-by-count":24,"title":["Whole exome sequencing identifies three novel mutations in <i>ANTXR1<\/i> in families with GAPO syndrome"],"prefix":"10.1002","volume":"164","author":[{"given":"Yavuz","family":"Bayram","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davut","family":"Pehlivan","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ender","family":"Karaca","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomasz","family":"Gambin","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shalini N.","family":"Jhangiani","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serkan","family":"Erdin","sequence":"additional","affiliation":[{"name":"Center for Human Genetic Research Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Gonzaga\u2010Jauregui","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wojciech","family":"Wiszniewski","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna","family":"Muzny","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Baylor\u2010Hopkins Center for Mendelian Genomics","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nursel H.","family":"Elcioglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Marmara University Medical Faculty Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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