{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T21:36:54Z","timestamp":1793223414933,"version":"4.5.0"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,2,24]],"date-time":"2020-02-24T00:00:00Z","timestamp":1582502400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,5]]},"abstract":"Abstract<\/jats:title>\n \n There is growing evidence that\n \n TP63<\/jats:italic>\n <\/jats:styled-content>\n is associated with isolated as well as syndromic premature ovarian insufficiency (POI). We report two adolescent sisters diagnosed with undetectable ovaries, uterine hypoplasia, and mammary gland hypoplasia. A novel paternally inherited nonsense variant in\n \n TP63<\/jats:italic>\n <\/jats:styled-content>\n [NM_003722.4 c.1927C\u2009>\u2009T,p.(Arg643*)] in exon 14 was identified by exome sequencing. One of the syndromes linked to\n \n TP63<\/jats:italic>\n <\/jats:styled-content>\n is limb mammary syndrome (LMS), an autosomal dominant inherited disorder characterized by ectrodactyly, hypoplasia of mammary\u2010gland and nipple, lacrimal duct stenosis, nail dysplasia, dental anomalies, cleft palate and\/or cleft lip and absence of skin and hair defects. The\n \n TP63<\/jats:italic>\n <\/jats:styled-content>\n variant segregated with symptoms of LMS in the family, however, no affected individual had limb defects. The phenotype reported here represents a novel syndromic phenotype associated with\n \n TP63<\/jats:italic>\n <\/jats:styled-content>\n . Reported cases with\n \n TP63<\/jats:italic>\n <\/jats:styled-content>\n associated POI are reviewed.\n <\/jats:p>","DOI":"10.1111\/cge.13725","type":"journal-article","created":{"date-parts":[[2020,2,17]],"date-time":"2020-02-17T22:19:21Z","timestamp":1581977961000},"page":"779-784","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Novel phenotype of syndromic premature ovarian insufficiency associated with\n \n TP63<\/i>\n <\/scp>\n molecular defect"],"prefix":"10.1111","volume":"97","author":[{"given":"Stine W.","family":"Mathorne","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pernille","family":"Ravn","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics Odense University Hospital Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorte","family":"Hansen","sequence":"additional","affiliation":[{"name":"H C Andersen Children's Hospital Odense University Hospital Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Signe S.","family":"Beck\u2010Nielsen","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Gj\u00f8rup","sequence":"additional","affiliation":[{"name":"Center for Oral Health in Rare Diseases, Department of Maxillofacial Surgery Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina P.","family":"S\u00f8rensen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5206-4327","authenticated-orcid":false,"given":"Christina R.","family":"Fagerberg","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital Odense 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