{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T10:47:13Z","timestamp":1758192433579,"version":"3.44.0"},"reference-count":0,"publisher":"Necmettin Erbakan University Press","issue":"04","funder":[{"DOI":"10.13039\/501100003593","name":"CNPq","doi-asserted-by":"crossref","award":["301926\/2007-7"],"award-info":[{"award-number":["301926\/2007-7"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corpus callosum, cleft palate, enamel defects, and genitourinary anomalies, which are rarely reported within the clinical spectrum of MLS. The 11,5 Mb deletion in Xp22.3p22.2 observed in the patient includes the entire HCCS gene (responsible for the MLS phenotype) and also encompasses several other genes involved with behavioral phenotypes, craniofacial and central nervous system development such as MID1, NLGN4X, AMELX, ARHGAP6, and TBL1X. The whole clinical features of our proband possibly represents an unusual MLS syndromic phenotype caused by an Xp22.3p22.2 continuous gene deletion.<\/jats:p>","DOI":"10.1055\/s-0039-3402047","type":"journal-article","created":{"date-parts":[[2020,1,3]],"date-time":"2020-01-03T18:59:52Z","timestamp":1578077992000},"page":"258-262","source":"Crossref","is-referenced-by-count":1,"title":["Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2"],"prefix":"10.53391","volume":"09","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5290-3987","authenticated-orcid":false,"given":"Siulan","family":"Vendramini-Pittoli","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of S\u00e3o Paulo, Bauru, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5805-0922","authenticated-orcid":false,"given":"Rosana Maria","family":"Candido-Souza","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of S\u00e3o Paulo, Bauru, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodrigo Gon\u00e7alves","family":"Quiezi","sequence":"additional","affiliation":[{"name":"Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roseli Maria","family":"Zechi-Ceide","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of S\u00e3o Paulo, Bauru, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy Mizue","family":"Kokitsu-Nakata","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of S\u00e3o Paulo, Bauru, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernanda Sarquis","family":"Jehee","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucilene Arilho","family":"Ribeiro-Bicudo","sequence":"additional","affiliation":[{"name":"Department of Genetics, Institute of Biosciences, Federal University of Goias, Goi\u00e2nia, Goi\u00e1s, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David R.","family":"FitzPatrick","sequence":"additional","affiliation":[{"name":"Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Leine","family":"Guion-Almeida","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of S\u00e3o Paulo, Bauru, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Richieri-Costa","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of S\u00e3o Paulo, Bauru, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2020,1,3]]},"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0039-3402047.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:44Z","timestamp":1758138344000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0039-3402047"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,3]]},"references-count":0,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2020,7,27]]},"published-print":{"date-parts":[[2020,12]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0039-3402047","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"type":"print","value":"2146-4596"},{"type":"electronic","value":"2146-460X"}],"subject":[],"published":{"date-parts":[[2020,1,3]]}}}