{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T16:44:17Z","timestamp":1787071457579,"version":"build-2736575974"},"reference-count":12,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"Suppl 1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:p>Genodermatoses are an inherited disorder, present with multisystem involvement. Help us to identify regular mutations and appalling skin diseases with recessive inheritance. Genetic heterogeneity is very common, and molecular diagnosis requires a broad effort. Recurrent mutations in unrelated families were seen in families with xeroderma, Griscelli. It seems likely that eventually oligonucleotide arrays will replace most other methods for routine mutation scanning of the more common diseases and planned sequencing will be increasingly used for rarer diseases.<\/jats:p>","DOI":"10.4103\/0975-7406.155903","type":"journal-article","created":{"date-parts":[[2015,4,28]],"date-time":"2015-04-28T05:42:03Z","timestamp":1430199723000},"page":"S203-S206","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":22,"title":["Genodermatoses"],"prefix":"10.4103","volume":"7","author":[{"given":"N. Aravindha","family":"Babu","sequence":"first","affiliation":[{"name":"Department of Oral pathology and Microbiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Rajesh","sequence":"additional","affiliation":[{"name":"Department of Oral pathology and Microbiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jayasri","family":"Krupaa","sequence":"additional","affiliation":[{"name":"Department of Oral pathology and Microbiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Gnananandar","sequence":"additional","affiliation":[{"name":"Department of Oral pathology and Microbiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20250922","doi-asserted-by":"crossref","first-page":"8","DOI":"10.4103\/0378-6323.38399","article-title":"Molecular diagnostics in genodermatoses \u2013 Simplified","volume":"74","author":"Hiremagalore","year":"2008","journal-title":"Indian J Dermatol Venereol Leprol"},{"key":"R5-20250922","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/1096-8628(20010422)100:2<164::AID-AJMG1244>3.0.CO;2-W","article-title":"A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED)","volume":"102","author":"Fraser","year":"2001","journal-title":"Am J Med Genet"},{"key":"R7-20250922","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1111\/j.1600-0714.2006.00456.x","article-title":"Hereditary benign intraepithelial dyskeratosis","volume":"36","author":"Jham","year":"2007","journal-title":"J Oral Pathol Med"},{"key":"R9-20250922","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/j.1087-0024.2005.10202.x","article-title":"Clinical and pathological features of pachyonychia congenita","volume":"10","author":"Leachman","year":"2005","journal-title":"J Investig Dermatol Symp Proc"},{"key":"R10-20250922","doi-asserted-by":"crossref","first-page":"281","DOI":"10.5001\/omj.2013.78","article-title":"Dyskeratosis congenita- management and review of complications: A case report","volume":"28","author":"Sinha","year":"2013","journal-title":"Oman Med J"},{"key":"R11-20250922","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1038\/21447","article-title":"The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta","volume":"399","author":"Masutani","year":"1999","journal-title":"Nature"},{"key":"R12-20250922","first-page":"355","article-title":"Incontinentia pigmenti (Bloch-Sulzberger syndrome): A systemic disorder","volume":"79","author":"Ehrenreich","year":"2007","journal-title":"Cutis"},{"key":"R13-20250922","first-page":"177","article-title":"Keratosis pilaris: A common follicular hyperkeratosis","volume":"82","author":"Hwang","year":"2008","journal-title":"Cutis"},{"key":"R14-20250922","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/S0151-9638(07)91823-2","article-title":"Warty dyskeratoma: Infundibular histogenesis. Anatomoclinical study of 43 cases","volume":"134","author":"Diallo","year":"2007","journal-title":"Ann Dermatol Venereol"},{"key":"R15-20250922","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1086\/301644","article-title":"Peutz-Jeghers syndrome: Confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4","volume":"61","author":"Mehenni","year":"1997","journal-title":"Am J Hum Genet"},{"key":"R16-20250922","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1016\/j.apmr.2011.01.016","article-title":"Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome","volume":"92","author":"Rombaut","year":"2011","journal-title":"Arch Phys Med Rehabil"},{"key":"R18-20250922","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1093\/hmg\/7.3.507","article-title":"Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation","volume":"7","author":"Marsh","year":"1998","journal-title":"Hum Mol Genet"}],"container-title":["Journal of Pharmacy and Bioallied Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/01438291-201507001-00056","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:46:25Z","timestamp":1787067985000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/01438291-201507001-00056"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4]]},"references-count":12,"journal-issue":{"issue":"Suppl 1","published-print":{"date-parts":[[2015]]}},"URL":"https:\/\/doi.org\/10.4103\/0975-7406.155903","relation":{},"ISSN":["0976-4879","0975-7406"],"issn-type":[{"value":"0976-4879","type":"print"},{"value":"0975-7406","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4]]},"assertion":[{"value":"2014-10-31","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2014-11-09","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}