{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T11:03:20Z","timestamp":1789643000973,"version":"4.0.0"},"reference-count":5,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1986,4]]},"abstract":"<jats:p>Noonan's syndrome is a clinically recognisable short stature syndrome with autosomal dominant inheritance. The diagnosis can be difficult as the phenotypic expression is very variable. There has been an attempt to divide this syndrome into type I (in which the facial features, especially ptosis, antimongoloid eye slant, and hypertelorism are prominent) and type II (where cardiological abnormalities are more to the fore), but this has not yet been confirmed by other studies.<\/jats:p>","DOI":"10.1136\/jmg.23.2.161","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"161-164","source":"Crossref","is-referenced-by-count":43,"title":["A Noonan-like short stature syndrome with sparse hair."],"prefix":"10.1136","volume":"23","author":[{"given":"M","family":"Baraitser","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M A","family":"Patton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1986,4,1]]},"reference":[{"key":"ref_1","first-page":"305","article-title":"Phenotypic heterogeneity in the Noonan syndrome","volume":"5","author":"Wilroy RS. Summitt RL. Tipton RE. Primm PA, Martens PR","year":"1979","unstructured":"Wilroy RS. Summitt RL. Tipton RE. Primm PA, Martens PR. Phenotypic heterogeneity in the Noonan syndrome. Birth Defects 1979;XV(5B):305-1 1.","journal-title":"Birth Defects"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1001\/archderm.1978.01640180063015","article-title":"Cutaneous manifestations of Noonan's syndrome","volume":"114","author":"Wyre, H.W.","year":"1978","unstructured":"Wyre HW. Cutaneous manifestations of Noonan's syndrome. Arch Dermatol 1978;114:929-30.","journal-title":"Arch Dermatol"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1111\/j.1365-2133.1979.tb01641.x","article-title":"Keratosis pilaris atrophicans faciei (ulerythema ophryogenes): a cutaneous marker in the Noonan syndrome","volume":"100","author":"AM, Pierini D.O.Pierini","year":"1979","unstructured":"Pierini DO. Pierini AM. Keratosis pilaris atrophicans faciei (ulerythema ophryogenes): a cutaneous marker in the Noonan syndrome. Br J Dermatol 1979:100:409-16.","journal-title":"Br J Dermatol"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"626","DOI":"10.7326\/0003-4819-80-5-626","article-title":"The Noonan syndromc: a family study","volume":"80","author":"Bolton, M.R.; Pugh, D.M.; Mattoli, L.F.; Dunn, M.I.; Schamke, R.N.","year":"1974","unstructured":"Bolton MR, Pugh DM, Mattoli LF, Dunn MI, Schamke RN. The Noonan syndromc: a family study. Anni Intern Med 1974;80:626-9.","journal-title":"Anni Intern Med"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/S0022-3476(65)80337-7","article-title":"The Turner phenotypc in the male","volume":"66","author":"Heller, R.U.","year":"1965","unstructured":"Heller RU. The Turner phenotypc in the male. J Pediatr 1965;66:48-63.","journal-title":"J Pediatr"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.23.2.161","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:25:44Z","timestamp":1759688744000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.23.2.161"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,4]]},"references-count":5,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1986,4,1]]},"published-print":{"date-parts":[[1986,4]]}},"alternative-id":["10.1136\/jmg.23.2.161"],"URL":"https:\/\/doi.org\/10.1136\/jmg.23.2.161","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,4]]}}}