{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T13:56:24Z","timestamp":1762955784654,"version":"3.37.3"},"reference-count":16,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2017,10,31]],"date-time":"2017-10-31T00:00:00Z","timestamp":1509408000000},"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":[[2017,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>The STAR syndrome is a rare X\u2010linked dominant developmental disorder caused by point mutations in the single <jats:italic>FAM58A<\/jats:italic> gene or deletions involving <jats:italic>FAM58A<\/jats:italic> and its flanking genes. The STAR phenotype is characterized by a rather homogeneous constellation of facial dysmorphisms and malformations summarized by its acronym, Syndactyly, Telecanthus, Anogenital, and Renal malformations. Here we describe a female patient with STAR syndrome and a 130\u2009kb deletion at Xq28, including the <jats:italic>FAM58A<\/jats:italic> gene. She presented with cleft lip palate, omphalocele, and cerebral malformations not previously considered part of the phenotypic spectrum of this syndrome. She died at 6 weeks from respiratory failure.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38484","type":"journal-article","created":{"date-parts":[[2017,10,31]],"date-time":"2017-10-31T16:26:41Z","timestamp":1509467201000},"page":"3226-3230","source":"Crossref","is-referenced-by-count":10,"title":["STAR syndrome plus: The first description of a female patient with the lethal form"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0174-3562","authenticated-orcid":false,"given":"Maria F.","family":"Bedeschi","sequence":"first","affiliation":[{"name":"Clinical Genetics Unit Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Giangiobbe","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leda","family":"Paganini","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano and Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Tabano","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano and Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosamaria","family":"Silipigni","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorenzo","family":"Colombo","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit Department of Clinical Science and Community Health Universit\u00e0 degli Studi di Milano and Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatrice L.","family":"Crippa","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit Department of Clinical Science and Community Health Universit\u00e0 degli Studi di Milano and Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faustina","family":"Lalatta","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvana","family":"Guerneri","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Miozzo","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano and Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,10,31]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen R. 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