{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T13:20:53Z","timestamp":1784726453930,"version":"3.55.0"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,4]],"date-time":"2005-06-04T00:00:00Z","timestamp":1117843200000},"content-version":"vor","delay-in-days":6670,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on two brothers with achalasia, adrenocortical insufficiency, alacrima, short stature, microcephaly, ataxia, optic atrophy, and developmental delay. The parents and three sibs are unaffected. Achalasia, adrenocortical insufficiency, and alacrima comprise a recently characterized familial multisystem disorder of unknown cause. Achalasia has also been described in association with microcephaly and mental retardation in one family and ataxia, optic atrophy, and mental retardation in another. The above reports and these sibs may represent variants of a single pleiotropic recessive gene. We suggest that abnormalities of the central nervous system arc a manifestation of the achalasia, adrenocortical insufficiency, alacrima syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320260319","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:46:04Z","timestamp":1118544364000},"page":"637-644","source":"Crossref","is-referenced-by-count":54,"title":["Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities"],"prefix":"10.1002","volume":"26","author":[{"given":"Elliot","family":"Ehrich","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaya","family":"Aranoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William G.","family":"Johnson","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":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(78)91268-0"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02386875"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-3101(22)00845-3"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1981.02130320023007"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060408"},{"key":"e_1_2_1_7_1","unstructured":"DungerD GrantDB(1986): Personal communication."},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198307000-00003"},{"key":"e_1_2_1_9_1","first-page":"270","article-title":"Associated disorders in Addison's disease in children, a study of 56 cases","volume":"15","author":"Kalifa G","year":"1985","journal-title":"Ped Radiol"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80093-3"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1542\/peds.51.5.943","article-title":"Sjoegren's syndrome and achalasia of the cardia in two siblings","volume":"51","author":"Koivukangas T","year":"1973","journal-title":"Pediatrics"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-50-2-268"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.33.9.1203"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.10.1241"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80073-3"},{"key":"e_1_2_1_16_1","first-page":"226","volume-title":"Opthalmology, principals and concepts","author":"Newell FW","year":"1982"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1971.00770060280016"},{"key":"e_1_2_1_18_1","first-page":"421","volume-title":"Current clinical neurophysiology, update on EEG and evoked potentials","author":"Stockard JE","year":"1980"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.50.4.291"},{"key":"e_1_2_1_20_1","first-page":"73","article-title":"The appearance of an undescribed syndrome and the inheritance of multiple diseases in three generations of a family","volume":"15","author":"Tyce FA","year":"1962","journal-title":"Psych Res Rep Am Psych Assoc"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1148\/107.2.407"},{"key":"e_1_2_1_22_1","first-page":"175","article-title":"Isolated glucocorticoid deficiency","volume":"30","author":"Werder EA","year":"1975","journal-title":"Helev Paediat Acta"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320260319","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320260319","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T04:07:02Z","timestamp":1695787622000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320260319"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,3]]},"references-count":21,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1987,3]]}},"alternative-id":["10.1002\/ajmg.1320260319"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320260319","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,3]]}}}