{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:43:09Z","timestamp":1790516589640,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,12,18]],"date-time":"2018-12-18T00:00:00Z","timestamp":1545091200000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Terminal osseous dysplasia with pigmentary defects (TODPD; MIM #300244) is an extremely rare, X\u2010linked dominant, in utero male\u2010lethal disease, characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibromatosis of childhood. Delayed\/abnormal ossification of bones of the hands and feet, joint contractures, and dysmorphic facial features may accompany. A single recurrent mutation (c.5217 G&gt;A) of the <jats:italic>FLNA<\/jats:italic> gene which causes cryptic splicing was identified as the cause of the disease. We here present the first TODPD case from Turkey with full\u2010blown phenotype who exhibit unique additional findings, hypopigmented patch on the lower extremity following Blaschko's lines and smooth muscle hamartoma of the scalp in review of all the previously reported TODPD cases.<\/jats:p>","DOI":"10.1002\/ajmg.a.60686","type":"journal-article","created":{"date-parts":[[2018,12,18]],"date-time":"2018-12-18T13:08:52Z","timestamp":1545138532000},"page":"123-129","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings"],"prefix":"10.1002","volume":"179","author":[{"given":"H\u00fclya","family":"Azakli","sequence":"first","affiliation":[{"name":"Medical Genetics Department Ko\u00e7 University School of Medicine (KUSoM)  \u0130stanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayse Deniz","family":"Akkaya","sequence":"additional","affiliation":[{"name":"Department of Dermatology Ko\u00e7 University School of Medicine (KUSoM)  \u0130stanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat Serhat","family":"Ayg\u00fcn","sequence":"additional","affiliation":[{"name":"Department of Radiology Ko\u00e7 University School of Medicine (KUSoM)  \u0130stanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00fcyan","family":"Demirkesen","sequence":"additional","affiliation":[{"name":"Department of Pathology Ac\u0131badem Mehmet Ali Ayd\u0131nlar University School of Medicine  \u0130stanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serpil","family":"Eraslan","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Ko\u00e7 University School of Medicine (KUSoM)  \u0130stanbul 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