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Quoted phrase not found in phrase index: "Waardenburg syndrome type 2E, without neurologic involvement"
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A de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II.
Niu Z, Lai Y, Tan S, Tang F, Tang X, Su Y, Liu L, Xie L, Fang Q, Xie M, Tang A. Niu Z, et al. Int J Pediatr Otorhinolaryngol. 2021 Jun;145:110711. doi: 10.1016/j.ijporl.2021.110711. Epub 2021 Apr 14. Int J Pediatr Otorhinolaryngol. 2021. PMID: 33865100
OBJECTIVE: Waardenburg syndrome type 2 (WS2) is a rare neural-crest disorder, characterized by heterochromic irides or blue eyes and sensorineural hearing loss. ...According to nucleic acid sequence and protein bioinformatic analysis, this mutation is …
OBJECTIVE: Waardenburg syndrome type 2 (WS2) is a rare neural-crest disorder, characterized by heterochromic iri …
Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.
Elmaleh-Bergès M, Baumann C, Noël-Pétroff N, Sekkal A, Couloigner V, Devriendt K, Wilson M, Marlin S, Sebag G, Pingault V. Elmaleh-Bergès M, et al. AJNR Am J Neuroradiol. 2013 Jun-Jul;34(6):1257-63. doi: 10.3174/ajnr.A3367. Epub 2012 Dec 13. AJNR Am J Neuroradiol. 2013. PMID: 23237859 Free PMC article.
BACKGROUND AND PURPOSE: Waardenburg syndrome, characterized by deafness and pigmentation abnormalities, is clinically and genetically heterogeneous, consisting of 4 distinct subtypes and involving several genes. SOX10 mutations have been found both in types 2 and 4 Waarden …
BACKGROUND AND PURPOSE: Waardenburg syndrome, characterized by deafness and pigmentation abnormalities, is clinically and genetically hetero …