{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T02:27:40Z","timestamp":1792290460980,"version":"4.4.0"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7458,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a 19\u2010year\u2010old girl with Kindler syndrome. She has suffered from bullae on pressure areas of the skin since birth. These healed with atrophic scars and caused marked atrophy of the skin of the palms and soles and wrinkled and parchment\u2010like skin of the dorsum of the hands and feet. Since infancy the patient has also suffered from severe photosensitivity on exposed areas and developed poikiloderma on the skin of her face, neck, chest, and upper back. Since age 17 years the patient has been free of bullae but moderate photosensitivity exists. Oral examination showed limitation of mouth opening, ankyloglossia, overjet malocclusions, and atrophy of buccal mucosa with widespread white macules. Results of laboratory tests were within normal limits.<\/jats:p><jats:p>The proposita's parents (family 1) are Jews of Kurdish origin and first cousins. She is the only one affected among five siblings. Family 1 is related to a second family (family 2) through a common great\u2010grandfather. The parents of family 2 are first cousins and they have three affected children. An autosomal recessive mode of inheritance of Kindler syndrome is suggested in these two related families.<\/jats:p>","DOI":"10.1002\/ajmg.1320200107","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:56:26Z","timestamp":1118519786000},"page":"43-48","source":"Crossref","is-referenced-by-count":36,"title":["Kindler syndrome in two related Kurdish families"],"prefix":"10.1002","volume":"20","author":[{"given":"Shoshana","family":"Hacham\u2010Zadeh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adi A.","family":"Garfunkel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.114.3.457"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(82)80073-X"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1001\/archderm.1978.01640200061016","article-title":"Congenital poikiloderma with features of hereditary acrokeratotic poikiloder","volume":"114","author":"Drazin MB","year":"1978","journal-title":"Arch Dermatol"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1954.tb12598.x"},{"key":"e_1_2_1_6_1","first-page":"69","article-title":"Acrok\u00e9ratose poikilodermique bulleuse et h\u00e9r\u00e9ditaire de Weary\u2010Kindler","volume":"108","author":"Larr\u00e8gue M","year":"1981","journal-title":"Ann Dermatol V\u00e9n\u00e9reol (Paris)"},{"key":"e_1_2_1_7_1","first-page":"949","article-title":"Poikilodermie diffuse avec acrok\u00e9ratose et precession de l\u00e9sions bulleuses, maladie de Weary\u2010Kindler","volume":"109","author":"Malveille J","year":"1982","journal-title":"Ann Dermatol V\u00e9n\u00e9reol (Paris)"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80122-2"},{"key":"e_1_2_1_9_1","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1001\/archderm.1971.04000160059010","article-title":"Hereditary acrokeratotic poikiloderma","volume":"103","author":"Weary PE","year":"1971","journal-title":"Arch Dermatol"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320200107","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320200107","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T12:46:42Z","timestamp":1697892402000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320200107"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,1]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1985,1]]}},"alternative-id":["10.1002\/ajmg.1320200107"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320200107","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,1]]}}}