{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T16:49:54Z","timestamp":1778863794763,"version":"3.51.4"},"reference-count":28,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,9,5]],"date-time":"2017-09-05T00:00:00Z","timestamp":1504569600000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004336","name":"Novartis","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004336","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004326","name":"Bayer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004326","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005614","name":"Biogen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005614","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004162","name":"Meath Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004162","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. <jats:italic>SOX10<\/jats:italic> mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, and Hirschsprung disease. Here we report a 32\u2010year\u2010old man with a novel heterozygous missense variant in <jats:italic>SOX10<\/jats:italic> gene, who presented with congenital deafness, Hirschsprung disease, iris heterochromia, foot deformity, and intermediate conduction velocity length\u2010dependent sensorimotor neuropathy. This case highlights that the presence of other non\u2010neuropathic features in a patient with presumed hereditary neuropathy should alert the clinician to possible atypical rare causes.<\/jats:p>","DOI":"10.1111\/jns.12221","type":"journal-article","created":{"date-parts":[[2017,5,23]],"date-time":"2017-05-23T23:32:06Z","timestamp":1495582326000},"page":"219-223","source":"Crossref","is-referenced-by-count":12,"title":["Waardenburg syndrome: a rare cause of inherited neuropathy due to <i>SOX10<\/i> mutation"],"prefix":"10.1111","volume":"22","author":[{"given":"Petya","family":"Bogdanova\u2010Mihaylova","sequence":"first","affiliation":[{"name":"Department of Neurology Adelaide &amp; Meath Hospitals incorporating the National Children's Hospital  Tallaght Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael D.","family":"Alexander","sequence":"additional","affiliation":[{"name":"Department of Neurophysiology Adelaide &amp; Meath Hospitals incorporating the National Children's Hospital  Tallaght Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raymond P. J.","family":"Murphy","sequence":"additional","affiliation":[{"name":"Department of Neurology Adelaide &amp; Meath Hospitals incorporating the National Children's Hospital  Tallaght Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sin\u00e9ad M.","family":"Murphy","sequence":"additional","affiliation":[{"name":"Department of Neurology Adelaide &amp; Meath Hospitals incorporating the National Children's Hospital  Tallaght Ireland"},{"name":"Academic Unit of Neurology Trinity College Dublin  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,9,5]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(74)80021-3"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2013.04.024"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(98)00843-6"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.24.2783"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/522090"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21583"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12864-016-3167-3"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20267"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10404"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1322"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2015.04.013"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr595"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.18-01-00237.1998"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1017\/CBO9780511897948"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01689-06"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.22262"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.20.9.3198-3209.2000"},{"key":"e_1_2_5_19_1","unstructured":"Pingaultet al2000"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0765-8"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21211"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80339-3"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb00638.x"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32247"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1086\/302895"},{"key":"e_1_2_5_26_1","first-page":"195","article-title":"A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness","volume":"3","author":"Waardenburg PJ","year":"1951","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/27.6.1409"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2005.08.008"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.186"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjns.12221","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.12221","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T02:57:51Z","timestamp":1696215471000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jns.12221"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9]]},"references-count":28,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["10.1111\/jns.12221"],"URL":"https:\/\/doi.org\/10.1111\/jns.12221","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"value":"1085-9489","type":"print"},{"value":"1529-8027","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9]]}}}