{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T11:30:23Z","timestamp":1791286223060,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5968,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1989,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Three children are described from two sibships. They share infantile ataxia with hypo\/aplastic vermis, hepatic fibrocirrhosis, slender\u2010shaped skeleton, peculiar face, and moderate mental retardation. One of them had a kidney biopsy that showed mild interstitial fibrosis and amyloid deposit, but had no functional impairment. Another suffered moderate proximal tubular acidosis. Two children had unilateral or bilateral choroidal coloboma. This pattern of defects is consistent with a syndrome previously reported in two other sib\u2010ships. The acronym COACH (<jats:italic>C<\/jats:italic>erebellar vermis hypo\/aplasia, <jats:italic>O<\/jats:italic>ligophrenia, congenital <jats:italic>A<\/jats:italic>taxia, <jats:italic>C<\/jats:italic>oloboma, <jats:italic>Hepatic<\/jats:italic> fibrocirrhosis) is suggested.<\/jats:p>","DOI":"10.1002\/ajmg.1320320217","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:54:16Z","timestamp":1118544856000},"page":"227-232","source":"Crossref","is-referenced-by-count":81,"title":["Further delineation of a syndrome of cerebellar vermis hypo\/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis"],"prefix":"10.1002","volume":"32","author":[{"given":"A.","family":"Verloes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Lambotte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Neri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"153","article-title":"The Smith\u2010Lemli\u2010Opitz syndrome in a profoundly retarded epileptic boy","volume":"15","author":"Chakanovskis JE","year":"1971","journal-title":"J Ment Deflc Res"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260110"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(69)93443-6"},{"key":"e_1_2_1_5_1","first-page":"261","article-title":"Familial juvenile nephronophtisis with hepatic fibrosis and neurocutaneous dysplasia","volume":"35","author":"Diederich E","year":"1980","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.45.8.737"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1973.tb04865.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb00636.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)80133-X"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.2.88"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01846041"},{"key":"e_1_2_1_12_1","volume-title":"Mendelian Inheritance in Man. Catalog of Autosomal Dominant, Autosomal Recessive and X\u2010linked Phenotypes","author":"McKusick VA","year":"1988"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441180"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091691"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.51.10.801"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190208"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240119"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1984.04050140102036"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320320217","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320320217","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T02:46:53Z","timestamp":1697942813000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320320217"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,2]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1989,2]]}},"alternative-id":["10.1002\/ajmg.1320320217"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320320217","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,2]]}}}