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This association is distinct from other known immuno-osseous dysplasias, including Schimke dysplasia, ADA deficiency with osseous changes, and Omenn phenotype with short limbed dwarfism.<\/jats:p>","DOI":"10.1136\/jmg.34.10.854","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"854-856","source":"Crossref","is-referenced-by-count":17,"title":["Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia."],"prefix":"10.1136","volume":"34","author":[{"given":"A","family":"Castriota-Scanderbeg","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Mingarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Caramia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Osimani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R S","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D L","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W R","family":"Wilcox","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,10,1]]},"reference":[{"key":"ref_1","first-page":"258","article-title":"Chondroitin-6-sulfate mucopolysaccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome","volume":"1","author":"Schimke, R.N.; Horton, W.A.; King, C.R.; Martin, N.L.","year":"1974","unstructured":"Schimke RN, Horton WA, King CR, Martin NL. 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Restoration of in vitro lymphocyte responses with exogenous adenosine deaminase in a patient with severe combined immunodeficiency. 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