{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T08:38:40Z","timestamp":1778575120644,"version":"3.51.4"},"reference-count":38,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,2,5]],"date-time":"2018-02-05T00:00:00Z","timestamp":1517788800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:p>Alacrima, the lack of tears, is a rare clinical finding that has been reported as a feature of multiple genetic disorders and can serve as a diagnostic clue to some rare conditions. Causes of alacrima range from absence\/hyposecretion of tears to agenesis or improper development of lacrimal gland ducts and associated structures. There are 13 known heritable disorders featuring varying degrees and causes of alacrima. Some manifest only the congenital absence of tears, while others affect multiple organ systems and may involve severe developmental delay, intellectual disability, and potentially life\u2010threatening autonomic dysregulation. To aid in the diagnosis for patients manifesting alacrima, we review the major causes and the various genetic disorders associated with alacrima and provide a differential template for diagnosis.<\/jats:p>","DOI":"10.1111\/cge.13173","type":"journal-article","created":{"date-parts":[[2017,11,9]],"date-time":"2017-11-09T11:42:45Z","timestamp":1510227765000},"page":"54-60","source":"Crossref","is-referenced-by-count":23,"title":["Diagnosis and genetics of alacrima"],"prefix":"10.1111","volume":"94","author":[{"given":"J.","family":"Adams","sequence":"first","affiliation":[{"name":"Baylor College of Medicine Interdepartmental Program of Developmental Biology  Houston TX"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.P.","family":"Schaaf","sequence":"additional","affiliation":[{"name":"Baylor College of Medicine Department of Molecular and Human Genetics  Houston TX"},{"name":"Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital  Houston TX"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,2,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00070.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004836-198510000-00008"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.08.002"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh653"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/377591"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-817722"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23524"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34121"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819609057867"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1976.03910040312003"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.2214\/AJR.12.9553"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.2147\/OPTH.S1496"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.1988.20"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01958948"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/81642"},{"key":"e_1_2_7_17_1","first-page":"S748","article-title":"Arnold's nerve cough reflex: evidence for chronic cough as a sensory vagal neuropathy","volume":"6","author":"Ryan NM","year":"2014","journal-title":"J Thorac Dis"},{"key":"e_1_2_7_18_1","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1542\/peds.3.4.479","article-title":"Central autonomic dysfunction with defective lacrimation","volume":"3","author":"BRIDGES TJ","year":"1949","journal-title":"Pediatrics"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-197009000-00001"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1980.12"},{"key":"e_1_2_7_21_1","first-page":"85","article-title":"LADD syndrome in five members of a three\u2010generation family and prenatal diagnosis","volume":"5","author":"Francannet C","year":"1994","journal-title":"Genet Couns"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00597.x"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80268-9"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.123.5.691"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1757"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20235"},{"key":"e_1_2_7_27_1","first-page":"276","article-title":"Congenital absence of major salivary glands","volume":"51","author":"Martinez Subias J","year":"2000","journal-title":"Acta Otorrinolaringol Esp"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992288702600709"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1086\/302895"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199909)46:3<313::AID-ANA6>3.0.CO;2-7"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A3367"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100819"},{"key":"e_1_2_7_33_1","first-page":"1","article-title":"Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum\u2010associated degradation pathway","volume":"16","author":"Gao Y","year":"2003","journal-title":"Ann Neurol"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.581"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010402"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530414"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.8.547"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.1.42"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1507"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13173","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13173","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T16:21:39Z","timestamp":1695486099000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13173"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,5]]},"references-count":38,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,7]]}},"alternative-id":["10.1111\/cge.13173"],"URL":"https:\/\/doi.org\/10.1111\/cge.13173","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2,5]]}}}