{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T16:19:52Z","timestamp":1790785192588,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,1,12]],"date-time":"2012-01-12T00:00:00Z","timestamp":1326326400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2012,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In this study we describe a case of a term infant with the neurological variant of Waardenburg syndrome type 4 (i.e., PCWH = <jats:italic>p<\/jats:italic>eripheral demyelinating neuropathy, <jats:italic>c<\/jats:italic>entral dysmyelinating leukodystrophy, <jats:italic>W<\/jats:italic>aardenburg syndrome, and <jats:italic>H<\/jats:italic>irschsprung disease, as defined in OMIM #609136) due to a novel heterozygous base exchange (c.671C&gt;G) in exon 4 of <jats:italic>SOX10<\/jats:italic>. Magnetic resonance imaging suggested central myelin deficiency with cerebral and cerebellar hypoplasia. Hirschsprung disease was confirmed by rectal biopsy. Sural nerve biopsy revealed hypoplasia due to amyelination (with the exception of a single, small myelinated fiber) and severe reduction in the number of axons. Muscle Nerve, 2012<\/jats:p>","DOI":"10.1002\/mus.22262","type":"journal-article","created":{"date-parts":[[2011,8,11]],"date-time":"2011-08-11T14:44:25Z","timestamp":1313073865000},"page":"284-290","source":"Crossref","is-referenced-by-count":11,"title":["<i>SOX10<\/i> mutation with peripheral amyelination and developmental disturbance of axons"],"prefix":"10.1002","volume":"45","author":[{"given":"Kathleen","family":"Parthey","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malte","family":"Kornhuber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Kunze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorothea","family":"Wand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kay W.","family":"Nolte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Nikolin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"Weis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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