{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:11:51Z","timestamp":1759687911073,"version":"build-2065373602"},"reference-count":9,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1983,10]]},"abstract":"<jats:p>A family is described in which three male members died in early infancy with severe thrombocytopenia and a fourth in adolescence with aplastic anaemia. One child was investigated in detail and shown to have amegakaryocytic thrombocytopenia, progressing to pancytopenia as a result of bone marrow hypoplasia. His associated congenital abnormalities differed from those described in Fanconi's aplastic anaemia, his chromosomes were normal, and the fetal haemoglobin level was 48%. Amegakaryocytic thrombocytopenia is itself rare and the index case appears unique. It is suggested that this family has a previously undescribed X linked variety of amegakaryocytic thrombocytopenia.<\/jats:p>","DOI":"10.1136\/jmg.20.5.361","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"361-364","source":"Crossref","is-referenced-by-count":3,"title":["Constitutional aplastic anaemia: a family with a new X linked variety of amegakaryocytic thrombocytopenia."],"prefix":"10.1136","volume":"20","author":[{"given":"A D","family":"Griffiths","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1983,10,1]]},"reference":[{"key":"ref_1","first-page":"431","article-title":"Classification anld aetiology of the aplastic anaemias","volume":"7","author":"Alter, B.P.; Potter, N.U.; Li, F.P.","year":"1978","unstructured":"Alter BP, Potter NU, Li FP. Classification anld aetiology of the aplastic anaemias. 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Am J Clin Pathol 1962;37:405-13.","journal-title":"Am J Clin Pathol"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"519","DOI":"10.5694\/j.1326-5377.1974.tb93172.x","article-title":"Aplastic anaemia in childhood. III. Constitutional aplastic anaemia and related cytopenias","volume":"1","author":"DM, O.'Gormon Hughes","year":"1974","unstructured":"O'Gormon Hughes DM. Aplastic anaemia in childhood. III. Constitutional aplastic anaemia and related cytopenias. Med J Aust 1974;1:519-26.","journal-title":"Med J Aust"},{"author":"Smith, C.H.","unstructured":"Smith CH. Blood diseases of infancy and childhood. St Louis: Mosby, 1966:714.","article-title":"Blood diseases of infancy and childhood","key":"ref_5"},{"key":"ref_6","first-page":"59","article-title":"Congenital thrombocytopenia associated with raised concentrations of haemoglobin F","volume":"33","author":"CG, Van Oostrom; RHH, Wilms","year":"1978","unstructured":"Van Oostrom CG, Wilms RHH. Congenital thrombocytopenia associated with raised concentrations of haemoglobin F. Helv Pediatr Acta 1978;33:59-61.","journal-title":"Helv Pediatr Acta"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1016\/S0031-3955(16)32778-X","article-title":"Disorders of bone marrow production","volume":"19","author":"Bloom, G.E.","year":"1972","unstructured":"Bloom GE. Disorders of bone marrow production. Pediatr Clin North Am 1972;19:983-1008.","journal-title":"Pediatr Clin North Am"},{"issue":"1","key":"ref_8","first-page":"17","article-title":"Alkali-resistant hemoglobin in aplastic anemia of both acquired and congenital types","volume":"266","author":"Shahidi, N.T.; Gerald, P.S.; Diamond, L.K.","year":"1962","unstructured":"Shahidi NT, Gerald PS, Diamond LK. Alkali-resistant hemoglobin in aplastic anemia of both acquired and congenital types. New Engl J Med 1962;266:1 17-20.","journal-title":"New Engl J Med"},{"key":"ref_9","first-page":"31","article-title":"syndrome-a 'new' autosomal dominant pleiotropic trait of radial\/ulnar hypoplasia with high risk of bone marrow failure and\/or leukemia","volume-title":"syndromes. Part B of Annual Review ofBirth Defects. Vol XIII, No 3B","author":"Gonzales, C.H.; Durkin-Stamm, M.V.; Geimer, N.F.","year":"1976","unstructured":"Gonzales CH, Durkin-Stamm MV, Geimer NF, et al. The W.T. syndrome-a 'new' autosomal dominant pleiotropic trait of radial\/ulnar hypoplasia with high risk of bone marrow failure and\/or leukemia. In: Bergsma D, Lowry RB, eds. New syndromes. Part B of Annual Review ofBirth Defects. Vol XIII, No 3B. New York: Liss, 1976: 31-8."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.20.5.361","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:44:57Z","timestamp":1759686297000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.20.5.361"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,10]]},"references-count":9,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1983,10,1]]},"published-print":{"date-parts":[[1983,10]]}},"alternative-id":["10.1136\/jmg.20.5.361"],"URL":"https:\/\/doi.org\/10.1136\/jmg.20.5.361","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1983,10]]}}}