{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T05:06:26Z","timestamp":1791954386272,"version":"4.3.4"},"reference-count":18,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2006,2,20]],"date-time":"2006-02-20T00:00:00Z","timestamp":1140393600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2006,2,20]],"date-time":"2006-02-20T00:00:00Z","timestamp":1140393600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,4]]},"DOI":"10.1111\/j.1365-2133.2006.07137.x","type":"journal-article","created":{"date-parts":[[2006,2,20]],"date-time":"2006-02-20T09:11:53Z","timestamp":1140426713000},"page":"766-769","source":"Crossref","is-referenced-by-count":18,"title":["Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis)"],"prefix":"10.1093","volume":"154","author":[{"given":"L.","family":"Feldmeyer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Mevorah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.H.","family":"Grzeschik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Huber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Hohl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2006,2,20]]},"reference":[{"key":"10.1111\/j.1365-2133.2006.07137.x-BIB1|cit1","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/BF00289453","article-title":"X-linked dominant chondrodysplasia punctata. Review of literature and report of a case","volume":"53","author":"Happle","year":"1979","journal-title":"Hum Genet"},{"key":"10.1111\/j.1365-2133.2006.07137.x-BIB2|cit2","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S0738-081X(96)00106-X","article-title":"Genodermatoses in women","volume":"15","author":"Mevorah","year":"1997","journal-title":"Clin Dermatol"},{"key":"10.1111\/j.1365-2133.2006.07137.x-BIB3|cit3","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1038\/10357","article-title":"Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-H\u00fcnermann syndrome","volume":"22","author":"Braverman","year":"1999","journal-title":"Nat Genet"},{"key":"10.1111\/j.1365-2133.2006.07137.x-BIB4|cit4","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/10350","article-title":"Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata","volume":"22","author":"Derry","year":"1999","journal-title":"Nat Genet"},{"key":"10.1111\/j.1365-2133.2006.07137.x-BIB5|cit5","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/0009-8981(95)06038-4","article-title":"Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography\/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid, and cultured skin fibroblasts","volume":"236","author":"Kelley","year":"1995","journal-title":"Clin Chim Acta"},{"key":"10.1111\/j.1365-2133.2006.07137.x-BIB6|cit6","doi-asserted-by":"crossref","first-page":"1769","DOI":"10.1093\/hmg\/8.9.1769","article-title":"Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome","volume":"8","author":"Kalff-Suske","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1111\/j.1365-2133.2006.07137.x-BIB7|cit7","doi-asserted-by":"crossref","first-page":"2503","DOI":"10.1093\/nar\/17.7.2503","article-title":"Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)","volume":"17","author":"Newton","year":"1989","journal-title":"Nucleic Acids Res"},{"key":"10.1111\/j.1365-2133.2006.07137.x-BIB8|cit8","doi-asserted-by":"crossref","first-page":"389","DOI":"10.2340\/0001555564389394","article-title":"Histologic and ultrastructural features of the ichthyotic skin in X-linked dominant chondrodysplasia punctata","volume":"64","author":"Kolde","year":"1984","journal-title":"Acta Derm Venereol (Stockh)"},{"key":"10.1111\/j.1365-2133.2006.07137.x-BIB9|cit9","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1111\/j.1600-0560.1995.tb00737.x","article-title":"Cutaneous histopathology of Conradi-H\u00fcnermann syndrome","volume":"22","author":"Hamaguchi","year":"1995","journal-title":"J Cutan Pathol"},{"key":"10.1111\/j.1365-2133.2006.07137.x-BIB10|cit10","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/(SICI)1096-8628(19990319)83:3<213::AID-AJMG15>3.0.CO;2-C","article-title":"Abnormal sterol metabolism in patients with Conradi-H\u00fcnermann-Happle syndrome and sporadic lethal chondrodysplasia punctata","volume":"83","author":"Kelley","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1111\/j.1365-2133.2006.07137.x-BIB11|cit11","doi-asserted-by":"crossref","first-page":"29314","DOI":"10.1016\/S0021-9258(19)62046-6","article-title":"Purification and amino-terminal sequencing of the high affinity phenylalkylamine Ca2+ antagonist binding protein from guinea pig liver endoplasmic reticulum","volume":"269","author":"Moebius","year":"1994","journal-title":"J Biol Chem"},{"key":"10.1111\/j.1365-2133.2006.07137.x-BIB12|cit12","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1097\/00125817-200211000-00006","article-title":"Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome)","volume":"4","author":"Herman","year":"2002","journal-title":"Genet Med"},{"key":"10.1111\/j.1365-2133.2006.07137.x-BIB13|cit13","doi-asserted-by":"crossref","first-page":"1951","DOI":"10.1093\/hmg\/9.13.1951","article-title":"The Conradi-H\u00fcnermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism","volume":"9","author":"Has","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1111\/j.1365-2133.2006.07137.x-BIB14|cit14","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1002\/(SICI)1096-8628(19990806)85:4<324::AID-AJMG2>3.0.CO;2-O","article-title":"Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko","volume":"85","author":"Traupe","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1111\/j.1365-2133.2006.07137.x-BIB15|cit15","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1046\/j.1523-1747.2002.01761.x","article-title":"Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-H\u00fcnermann-Happle syndrome","volume":"118","author":"Has","year":"2002","journal-title":"J Invest Dermatol"},{"key":"10.1111\/j.1365-2133.2006.07137.x-BIB16|cit16","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1038\/ng1134","article-title":"A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis","volume":"33","author":"Cooper","year":"2003","journal-title":"Nat Genet"},{"key":"10.1111\/j.1365-2133.2006.07137.x-BIB17|cit17","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1086\/346093","article-title":"Identification of PEX7 as the second gene involved in Refsum disease","volume":"72","author":"Brink","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1111\/j.1365-2133.2006.07137.x-BIB18|cit18","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/humu.10315","article-title":"Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7)","volume":"23","author":"Jansen","year":"2004","journal-title":"Hum Mutat"}],"container-title":["British Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2133.2006.07137.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2133.2006.07137.x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1111\/j.1365-2133.2006.07137.x\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,3]],"date-time":"2024-02-03T01:02:04Z","timestamp":1706922124000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bjd\/article\/154\/4\/766\/6637062"}},"subtitle":["X-linked dominant chondrodysplasia punctata"],"short-title":[],"issued":{"date-parts":[[2006,2,20]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2006,4]]}},"URL":"https:\/\/doi.org\/10.1111\/j.1365-2133.2006.07137.x","archive":["Portico"],"relation":{},"ISSN":["0007-0963"],"issn-type":[{"value":"0007-0963","type":"print"}],"subject":[],"published":{"date-parts":[[2006,2,20]]}}}