{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T15:07:25Z","timestamp":1791990445566,"version":"4.4.0"},"reference-count":7,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,11]]},"abstract":"<jats:p>The clinical features and progress of a child with the type VII form of Ehlers-Danlos syndrome due to a deletion in the pro alpha 1(I) of type I procollagen were studied. The child was born with bilateral dislocations of hips and knees and all other joints were markedly hypermobile. Persistent severe joint instability was the major clinical abnormality. She had a depressed nasal bridge with prominent paranasal folds and deeply set eyes with mild hypertelorism and micrognathia. The skin was soft, moderately hyperelastic, and sagged over the face and knees. Skin fragility and easy bruising appeared when she started walking. Electron microscopy of the dermis showed irregular collagen fibrils.<\/jats:p>","DOI":"10.1136\/jmg.24.11.698","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"698-701","source":"Crossref","is-referenced-by-count":35,"title":["The clinical features of Ehlers-Danlos syndrome type VII due to a deletion of 24 amino acids from the pro alpha 1(I) chain of type I procollagen."],"prefix":"10.1136","volume":"24","author":[{"given":"W G","family":"Cole","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Evans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D O","family":"Sillence","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1987,11,1]]},"reference":[{"key":"ref_1","first-page":"376","article-title":"Ilcritabhc disciases of collagen","author":"KI, Prockop D.J.Kivirikko","unstructured":"Prockop DJ. Kivirikko KI. Ilcritabhc disciases of collagen. N Etngl J ed 1984:311:376-86."},{"issue":"182","key":"ref_2","first-page":"298","article-title":"Bvers P11. McKusick VA. Defect in conversion of procollagcn to collagcn in a form of Ehlcrs-Danlos sy!ndromc","volume":"1973","author":"LD, Lichtenstcin JR. Martin GR. Kohn","unstructured":"Lichtenstcin JR. Martin GR. Kohn LD. Bvers P11. McKusick VA. Defect in conversion of procollagcn to collagcn in a form of Ehlcrs-Danlos sy!ndromc. Science 1973,182:298-300.","journal-title":"Science"},{"key":"ref_3","first-page":"11322","article-title":"Aldridgc JF. A hetcrozygous collagcn dcfcct in a variant of the Ehicrs-Danlos syndromc type VIl","volume":"260","author":"FD, Eyrc DR. Shapiro","year":"1985","unstructured":"Eyrc DR. Shapiro FD. Aldridgc JF. A hetcrozygous collagcn dcfcct in a variant of the Ehicrs-Danlos syndromc type VIl. J Biol (Chem 1985:260:11322\"-9.","journal-title":"J Biol (Chem"},{"issue":"261","key":"ref_4","first-page":"5496","article-title":"Dclction of 24 amino acids from the pro-al(l) chain of typc I procollagcn in a paiticnt with the Ehlcrs-Danlos syndromtc ePC VII","volume":"1986","author":"Colc, W.G.; Batcman, Chan D.Chamhcrs G.W.Wailker I.D.; J.F.","unstructured":"Colc WG, Chan D. Chamhcrs GW. Wailker ID. Batcman JF. Dclction of 24 amino acids from the pro-al(l) chain of typc I procollagcn in a paiticnt with the Ehlcrs-Danlos syndromtc ePC VII. J Biol Cl\/inti 1986:261:5496-503.","journal-title":"J Biol Cl\/inti"},{"key":"ref_5","article-title":"Boie dv.spla.sia.s: genetic (01(1 iultrastrucirtlurl stlmdies witi sp(cial refereice to osteogene.sis iunperfecta","author":"Silkcncc, D.O.","year":"1981","unstructured":"Silkcncc DO. Boie dv.spla.sia.s: genetic (01(1 iultrastrucirtlurl stlmdies witi sp(cial refereice to osteogene.sis iunperfecta. Ann Arbor: Univcrsitv Microfilms-Intcrnattional. 1981)."},{"key":"ref_6","first-page":"7","article-title":"Morphologicili observations on conncctiv c tissue frotlm individuals w\\ith procollagcn peptidatse deficiency (Ehlcrs-Danlos typc VIl syndromc). Amn J Humt Geniet 1973,25: 86A. fiolhrook KA. Bycrs P1i. Structural ahnormalities in the dcrmali collagcn and clastic matrix from the skin of paitients with inhcritcd connective tissuc disordcrs","volume":"79","author":"Williatms, B.; Lichtenstcin, Cranlcy S.Doty S.; J.","year":"1982","unstructured":"Williatms B, Cranlcy S. Doty S. Lichtenstcin J. Morphologicili observations on conncctiv c tissue frotlm individuals w\\ith procollagcn peptidatse deficiency (Ehlcrs-Danlos typc VIl syndromc). Amn J Humt Geniet 1973,25:86A. fiolhrook KA. Bycrs P1i. Structural ahnormalities in the dcrmali collagcn and clastic matrix from the skin of paitients with inhcritcd connective tissuc disordcrs. J Inrest Dermtnatol 1982:79:7-16S. Lichtcnstein JR. Kohn LD. Martin GR. et at. Procollagen peptidase deficiency in a form of the Ehlcrs-Danlos syndromc.","journal-title":"J Inrest Dermtnatol; peptidase deficiency in a form of the Ehlcrs-Danlos syndromc"},{"key":"ref_7","first-page":"333","article-title":"Tratis A.ssoc Ain PhYs.sicianis","volume":"88","year":"1973","unstructured":"Tratis A.ssoc Ain PhYs.sicianis 1973:88:333-9."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.24.11.698","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:01:40Z","timestamp":1759687300000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.24.11.698"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,11]]},"references-count":7,"journal-issue":{"issue":"11","published-online":{"date-parts":[[1987,11,1]]},"published-print":{"date-parts":[[1987,11]]}},"alternative-id":["10.1136\/jmg.24.11.698"],"URL":"https:\/\/doi.org\/10.1136\/jmg.24.11.698","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,11]]}}}