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Quoted phrase not found in phrase index: "Waardenburg syndrome type 2E, without neurologic involvement"
Page 1
A de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II.
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 …
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