{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T14:23:48Z","timestamp":1740147828004,"version":"3.37.3"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2018,1,31]],"date-time":"2018-01-31T00:00:00Z","timestamp":1517356800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"None"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Indian J Pediatr"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1007\/s12098-018-2632-1","type":"journal-article","created":{"date-parts":[[2018,1,31]],"date-time":"2018-01-31T00:05:26Z","timestamp":1517357126000},"page":"1067-1072","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum"],"prefix":"10.1007","volume":"85","author":[{"given":"Dhanya","family":"Yesodharan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uta Meyer zum","family":"B\u00fcschenfelde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerstin","family":"Kutsche","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Mohandas Nair","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9575-0722","authenticated-orcid":false,"given":"Sheela","family":"Nampoothiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,1,31]]},"reference":[{"key":"2632_CR1","doi-asserted-by":"publisher","first-page":"1207","DOI":"10.1038\/ejhg.2009.40","volume":"17","author":"MB Harmsen","year":"2009","unstructured":"Harmsen MB, Azzarello-Burri S, Garc\u00eda Gonz\u00e1lez MM, et al. Goltz - Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defect (MLS) syndrome: no evidence of genetic overlap. Eur J Hum Genet. 2009;17:1207\u201315.","journal-title":"Eur J Hum Genet"},{"issue":"2","key":"2632_CR2","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1002\/ajmg.a.35730","volume":"161A","author":"T Bierhals","year":"2013","unstructured":"Bierhals T, Maddukuri SB, Kutsche K, Girisha KM. Expanding the phenotype associated with 17q12 duplication: case report and review of the literature. Am J Med Genet A. 2013;161A(2):352\u20139.","journal-title":"Am J Med Genet A"},{"key":"2632_CR3","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1001\/archderm.1962.01590120006002","volume":"86","author":"RW Goltz","year":"1962","unstructured":"Goltz RW, Peterson WC, Gorlin RJ, Ravitz HG. Focal dermal hypoplasia. Arch Dermatol. 1962;86:708\u201317.","journal-title":"Arch Dermatol"},{"key":"2632_CR4","first-page":"421","volume":"43","author":"RJ Gorlin","year":"1963","unstructured":"Gorlin RJ, Meskin LH, Peterson WC, Goltz RW. Focal dermal hypoplasia syndrome. Acta Derm Venereol. 1963;43:421\u201340.","journal-title":"Acta Derm Venereol"},{"key":"2632_CR5","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1002\/ajmg.c.31473","volume":"172C","author":"B Bostwick","year":"2016","unstructured":"Bostwick B, Fang P, Patel A, Sutton VR. Phenotypic and Molecular characterization of focal dermal hypoplasia in 18 individuals. Am J Med Genet Part C Semin Med Genet. 2016;172C:9\u201320.","journal-title":"Am J Med Genet Part C Semin Med Genet"},{"key":"2632_CR6","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1002\/ajmg.c.31478","volume":"172C","author":"JT Wright","year":"2016","unstructured":"Wright JT, Puranik CP, Farrington F. Oral phenotype and variation in focal dermal hypoplasia. Am J Med Genet Part C Semin Med Genet. 2016;172C:52\u20138.","journal-title":"Am J Med Genet Part C Semin Med Genet"},{"key":"2632_CR7","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1136\/jmg.27.3.180","volume":"27","author":"IK Temple","year":"1990","unstructured":"Temple IK, Mac Dowall P, Baraitser M, Atherton DJ. Focal dermal hypoplasia (Goltz syndrome). J Med Genet. 1990;27:180\u20137.","journal-title":"J Med Genet"},{"key":"2632_CR8","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1016\/S0190-9622(81)70027-6","volume":"4","author":"WH Burgdorf","year":"1981","unstructured":"Burgdorf WH, Dick GF, Soderberg MD, Goltz RW. Focal dermal hypoplasia in a father and a daughter. J Am Ac Dermatol. 1981;4:273\u20137.","journal-title":"J Am Ac Dermatol"},{"key":"2632_CR9","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1111\/odi.12083","volume":"20","author":"L Wang","year":"2014","unstructured":"Wang L, Jin X, Zhao X, et al. Focal dermal hypoplasia: updates. Oral Dis. 2014;20:17\u201324.","journal-title":"Oral Dis"},{"key":"2632_CR10","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1002\/ajmg.c.31470","volume":"172C","author":"A Smith","year":"2016","unstructured":"Smith A, Hunt TR 3rd. The orthopedic characterization of Goltz syndrome. Am J Med Genet C Semin Med Genet. 2016;172C:41\u20133.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2632_CR11","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1002\/ajmg.c.31480","volume":"172","author":"JD Gisseman","year":"2016","unstructured":"Gisseman JD, Herce HH. Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): a case series of 18 patients. Am J Med Genet C Semin Med Genet. 2016;172:59\u201363.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2632_CR12","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1002\/ajmg.c.31471","volume":"172C","author":"KK Deidrick","year":"2016","unstructured":"Deidrick KK, Early M, Constance J, Stein M, Fete TJ. Cognitive and psychological functioning in focal dermal hypoplasia. Am J Med Genet C Semin Med Genet. 2016;172C:34\u201340.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2632_CR13","doi-asserted-by":"publisher","first-page":"716","DOI":"10.1136\/jmg.2009.068403","volume":"46","author":"SM Maas","year":"2009","unstructured":"Maas SM, Lombardi MP, van Essen AJ, et al. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. J Med Genet. 2009;46:716\u201320.","journal-title":"J Med Genet"},{"key":"2632_CR14","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1002\/ajmg.c.31477","volume":"172C","author":"OA Adeyemi - Fowodw","year":"2016","unstructured":"Adeyemi - Fowodw OA, Mansouri R, Dietrich JE. Gynecological findings in Goltz syndrome: a case series. Am J Med Genet Part C Semin Med Genet. 2016;172C:64\u20136.","journal-title":"Am J Med Genet Part C Semin Med Genet"},{"key":"2632_CR15","doi-asserted-by":"crossref","unstructured":"Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the head and neck, 4th ed. New York\/London: Oxford University Press; 2001. p. 571\u20136.","DOI":"10.1093\/oso\/9780195118612.001.0001"},{"key":"2632_CR16","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1038\/ejhg.2014.135","volume":"23","author":"PD Brady","year":"2015","unstructured":"Brady PD, Van Esch H, Fieremans N, et al. Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia. Eur J Hum Genet. 2015;23:551\u20134.","journal-title":"Eur J Hum Genet"},{"key":"2632_CR17","doi-asserted-by":"publisher","first-page":"879","DOI":"10.1016\/0190-9622(91)70274-6","volume":"25","author":"A Mah\u00e9","year":"1991","unstructured":"Mah\u00e9 A, Couturier J, Mathe C, Lebras F, Bruet A, Fendler JP. Minimal focal dermal hypoplasia in a man: a case of father to daughter transmission. J Am Ac Dermatol. 1991;25:879\u201388.","journal-title":"J Am Ac Dermatol"}],"container-title":["The Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12098-018-2632-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-018-2632-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-018-2632-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,30]],"date-time":"2024-06-30T20:47:17Z","timestamp":1719780437000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12098-018-2632-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,31]]},"references-count":17,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["2632"],"URL":"https:\/\/doi.org\/10.1007\/s12098-018-2632-1","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"type":"print","value":"0019-5456"},{"type":"electronic","value":"0973-7693"}],"subject":[],"published":{"date-parts":[[2018,1,31]]},"assertion":[{"value":"10 November 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 January 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 January 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"None.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}