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The purpose of this paper is to contribute to the phenotypic delineation of this syndrome and to highlight the need for immunological investigation in patients with multiple congenital malformations.<\/jats:p>","DOI":"10.1136\/jmg.33.3.227","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"227-229","source":"Crossref","is-referenced-by-count":6,"title":["Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al."],"prefix":"10.1136","volume":"33","author":[{"given":"C","family":"Perandones","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R I","family":"Cerretini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R M","family":"Vargas Vera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E I","family":"Aranda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L G","family":"Alba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O H","family":"Pivetta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1136\/jmg.23.4.355","article-title":"Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers","volume":"23","author":"Say, B.; Barber, N.; Miller, G.C.; Grogg, S.E.","year":"1986","unstructured":"Say B, Barber N, Miller GC, Grogg SE. Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers. J Med Genet 1986; 23:355-9.","journal-title":"J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1006\/clin.1995.1015","article-title":"Neutrophil chemotaxis induced by immune complexes","volume":"74","author":"Trevani, A.S.; Fontan, P.A.; Andonegui, G.A.; Isturiz, M.A.; Geffner, JR","year":"1995","unstructured":"Trevani AS, Fontan PA, Andonegui GA, Isturiz MA, Geffner JR. Neutrophil chemotaxis induced by immune complexes. Clin Immunol Immunopathol 1995;74:107-11.","journal-title":"Clin Immunol Immunopathol"},{"key":"ref_3","first-page":"17","article-title":"Peripheral blood culture","volume-title":"The ACT cytogenetics laboratory manual","author":"Barch, M.J.; Lawce, H.J.; Arsham, M.S.","year":"1991","unstructured":"Barch MJ, Lawce HJ, Arsham MS. Peripheral blood culture. In: Barch MJ, ed. The ACT cytogenetics laboratory manual. 2nd ed. New York: Raven Press, 1991:17-30.","edition":"2nd ed"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/S0140-6736(71)90287-X","article-title":"A rapid banding technique for human chromosomes","volume":"ii:","author":"Seabright, M.","year":"1971","unstructured":"Seabright M. A rapid banding technique for human chromosomes. Lancet 1971;ii:971-2.","journal-title":"Lancet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1016\/S0022-3476(79)80186-9","article-title":"Association of birth defects and immunodeficiency","volume":"94","author":"Say, B.; Barber, N.; Miller, G.C.; Grogg, S.E.","year":"1979","unstructured":"Say B, Barber N, Miller GC, Grogg SE. Association of birth defects and immunodeficiency. J Pediatr 1979;94:849-50.","journal-title":"J Pediatr"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1016\/S0022-3476(82)80013-9","article-title":"Severe recurrent bacterial infections associated with defective adherence and chemotaxis in two patients with neutrophils deficient in a cell-associated glycoprotein","volume":"101","author":"Bowen, T.J.; Ochs, H.D.; Altman, L.C.","year":"1982","unstructured":"Bowen TJ, Ochs HD, Altman LC, et al. Severe recurrent bacterial infections associated with defective adherence and chemotaxis in two patients with neutrophils deficient in a cell-associated glycoprotein. J Pediatr 1982;101:932-40.","journal-title":"J Pediatr"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1111\/j.1399-0004.1988.tb02857.x","article-title":"Defective polymorphonuclear chemotaxis in patients with Turner's syndrome","volume":"34","author":"M, Lopez Osuna; E, Vega Avila; F, Salamanca; R, Kretschmer","year":"1988","unstructured":"Lopez Osuna M, Vega Avila E, Salamanca F, Kretschmer R. Defective polymorphonuclear chemotaxis in patients with Turner's syndrome. 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