{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T02:28:18Z","timestamp":1792722498222,"version":"4.5.0"},"reference-count":17,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,11]]},"DOI":"10.1136\/jmg.35.11.964","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"964-965","source":"Crossref","is-referenced-by-count":28,"title":["Severe primary pulmonary hypoplasia (\"acinar dysplasia\") in sibs: a genetically determined mesodermal defect?"],"prefix":"10.1136","volume":"35","author":[{"given":"P","family":"Moerman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Vanhole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Devlieger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J P","family":"Fryns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,11,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1093\/nar\/24.1.68","article-title":"Compilation of tRNA sequences of tRNA genes","volume":"24","author":"Sprinzl, M.; Steegborn, C.; Hubel, F.; Steinberg, S.","year":"1996","unstructured":"Sprinzl M, Steegborn C, Hubel F, Steinberg S. Compilation of tRNA sequences of tRNA genes. Nucleic Acids Res 1996;24:68-72.","journal-title":"Nucleic Acids Res"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1093\/hmg\/4.8.1421","article-title":"Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNAs'e(ucN) gene","volume":"4","author":"Tiranti, V.; Chariot, P.; Carella, F.","year":"1995","unstructured":"Tiranti V, Chariot P, Carella F, et al. Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNAs'e(ucN) gene. Hum Mol Genet 1995;4: 1421-7.","journal-title":"Hum Mol Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1002\/ana.410420220","article-title":"Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrP gene","volume":"42","author":"Santorelli, F.; Tanji, K.; Sano, M.","year":"1997","unstructured":"Santorelli F, Tanji K, Sano M, et al. Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrP gene. Ann Neurol 1997;42:256-60.","journal-title":"Ann Neurol"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/S0022-3476(82)80261-8","article-title":"Errors of morphogenesis: concepts and terms. Recommendations of an International Working Group","volume":"100","author":"Spranger, J.; Benirschke, K.; Hall, J.G.","year":"1982","unstructured":"Spranger J, Benirschke K, Hall JG, et al. Errors of morphogenesis: concepts and terms. Recommendations of an International Working Group. Jf Pediatr 1982;100: 160-5.","journal-title":"Jf Pediatr"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1111\/j.1365-2559.1987.tb02682.x","article-title":"Pathology of the lung in the fetus and neonate, with particular reference to problems of growth and maturation","volume":"11","author":"Wigglesworth, J.S.","year":"1987","unstructured":"Wigglesworth JS. Pathology of the lung in the fetus and neonate, with particular reference to problems of growth and maturation. Histopathology 1987;11:671-89.","journal-title":"Histopathology"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1001\/archpedi.1977.02120240038008","article-title":"Primary pulmonary hypoplasia. Report of a case with polyhydramnios","volume":"131","author":"Mendelsohn, G.; Hutchins, G.M.","year":"1971","unstructured":"Mendelsohn G, Hutchins GM. Primary pulmonary hypoplasia. Report of a case with polyhydramnios. Am _J Dis Child 1971;131:1220-3.","journal-title":"Am _J Dis Child"},{"key":"ref_7","first-page":"573","article-title":"Primary pulmonary hypoplasia in the neonate","volume":"95","author":"Swischuk, L.E.; Richardson, C.J.; Nichols, M.M.; Ingman, M.J.","year":"1979","unstructured":"Swischuk LE, Richardson CJ, Nichols MM, Ingman MJ. Primary pulmonary hypoplasia in the neonate. 7 Pediatr 1979;95:573-7."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1007\/BF02456280","article-title":"Primary (isolated) bilateral pulmonary hypoplasia: a comparative study of radiologic findings and autopsy results","volume":"16","author":"Langer, R.; Kaufmann, H.J.","year":"1986","unstructured":"Langer R, Kaufmann HJ. Primary (isolated) bilateral pulmonary hypoplasia: a comparative study of radiologic findings and autopsy results. Pediatr Radiol 1986;16:175-9.","journal-title":"Pediatr Radiol"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/BF03030956","article-title":"Familial pulmonary hypoplasia","volume":"146","author":"Boylan, P.; Howe, A.; Gearty, J.; O'Brian, N.G.","year":"1977","unstructured":"Boylan P, Howe A, Gearty J, O'Brian NG. Familial pulmonary hypoplasia. Ir Jf Med Sci 1977;146: 179-80.","journal-title":"Ir Jf Med Sci"},{"key":"ref_10","article-title":"Mendelian inheritance in man. MIM number 265430","author":"communication. In, Fraser F.C.Personal; VA, McKusick","unstructured":"Fraser FC. Personal communication. In: McKusick VA. Mendelian inheritance in man. MIM number 265430. Baltimore: The Johns Hopkins University Press, 1992:1666."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1007\/BF01983413","article-title":"Familial isolated pulmonary hypoplasia: a case report, suggesting autosomal recessive inheritance","volume":"153","author":"Frey, B.; Fleishauer, A.; Gersbach, M.","year":"1994","unstructured":"Frey B, Fleishauer A, Gersbach M. Familial isolated pulmonary hypoplasia: a case report, suggesting autosomal recessive inheritance. Eur Jf Pediatr 1994;153:460-3.","journal-title":"Eur Jf Pediatr"},{"key":"ref_12","first-page":"336","article-title":"Familial primary pulmonary hypoplasia","volume":"154","author":"Hamel, B.C.J.","year":"1995","unstructured":"Hamel BCJ. Familial primary pulmonary hypoplasia. EurJPediatr 1995;154:336.","journal-title":"EurJPediatr"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1290","DOI":"10.1016\/S0046-8177(86)80576-7","article-title":"Acinar dysplasia: a new form of pulmonary maldevelopment","volume":"17","author":"Ruthledge, J.C.; Jensen, P.","year":"1986","unstructured":"Ruthledge JC, Jensen P. Acinar dysplasia: a new form of pulmonary maldevelopment. Hum Pathol 1986;17:1290-3.","journal-title":"Hum Pathol"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"69","DOI":"10.3109\/00313029109061444","article-title":"Congenital acinar aplasia: an extreme form of pulmonary maldevelopment","volume":"23","author":"Chambers, H.M.","year":"1991","unstructured":"Chambers HM. Congenital acinar aplasia: an extreme form of pulmonary maldevelopment. Pathology 1991;23:69-71.","journal-title":"Pathology"},{"key":"ref_15","first-page":"155","article-title":"Congenital and developmental diseases","author":"Stocker, J.T.","year":"1994","unstructured":"Stocker JT. Congenital and developmental diseases. In: Dail DH, Hammar SP, eds. Pulmonary pathology. 2nd ed. New York: SpringerVerlag, 1994:155-90.","edition":"2nd ed"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1002\/jez.1401750405","article-title":"Mammalian lung development: interactions in formation and morphogenesis of tracheal buds","volume":"175","author":"Wessels, N.K.","year":"1970","unstructured":"Wessels NK. Mammalian lung development: interactions in formation and morphogenesis of tracheal buds. J Exp Zool 1970;175:455-66.","journal-title":"J Exp Zool"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1101\/gad.10.1.60","article-title":"The T\/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary","volume":"10","author":"Kimura, S.; Hara, Y.; Pineau, T.","year":"1996","unstructured":"Kimura S, Hara Y, Pineau T, et al. The T\/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary. Genes Dev 1996;10:60-9.","journal-title":"Genes Dev"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.35.11.964","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:07:24Z","timestamp":1760735244000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.35.11.964"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,11]]},"references-count":17,"journal-issue":{"issue":"11","published-online":{"date-parts":[[1998,11,1]]},"published-print":{"date-parts":[[1998,11]]}},"alternative-id":["10.1136\/jmg.35.11.964"],"URL":"https:\/\/doi.org\/10.1136\/jmg.35.11.964","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,11]]}}}