Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations
M Elmaleh-Bergès, C Baumann… - American Journal …, 2013 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Waardenburg syndrome, characterized by deafness and
pigmentation abnormalities, is clinically and genetically heterogeneous, consisting of 4 …
pigmentation abnormalities, is clinically and genetically heterogeneous, consisting of 4 …
Identification and functional analysis of SOX10 missense mutations in different subtypes of waardenburg syndrome
A Chaoui, Y Watanabe, R Touraine, V Baral… - Human …, 2011 - Wiley Online Library
Waardenburg syndrome (WS) is a rare disorder characterized by pigmentation defects and
sensorineural deafness, classified into four clinical subtypes, WS1–S4. Whereas the …
sensorineural deafness, classified into four clinical subtypes, WS1–S4. Whereas the …
Hearing loss in Waardenburg syndrome: a systematic review
J Song, Y Feng, FR Acke, P Coucke… - Clinical …, 2016 - Wiley Online Library
Waardenburg syndrome (WS) is a rare genetic disorder characterized by hearing loss (HL)
and pigment disturbances of hair, skin and iris. Classifications exist based on phenotype …
and pigment disturbances of hair, skin and iris. Classifications exist based on phenotype …
[PDF][PDF] Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
N Bondurand, F Dastot-Le Moal, L Stanchina… - The American Journal of …, 2007 - cell.com
Waardenburg syndrome (WS) is an auditory-pigmentary disorder that exhibits varying
combinations of sensorineural hearing loss and abnormal pigmentation of the hair and skin …
combinations of sensorineural hearing loss and abnormal pigmentation of the hair and skin …
Temporal bone imaging findings in Waardenburg's syndrome
C Oysu, A Oysu, I Aslan, M Tinaz - International journal of pediatric …, 2001 - Elsevier
Objective:(a) To report computed tomography findings of eight new cases with
Waardenburg's syndrome (WS) type I and review reported temporal bone radiographic and …
Waardenburg's syndrome (WS) type I and review reported temporal bone radiographic and …
Analysis of genotype–phenotype relationships in 90 Chinese probands with Waardenburg syndrome
G Wang, X Li, X Gao, Y Su, M Han, B Gao, C Guo… - Human Genetics, 2022 - Springer
Waardenburg syndrome (WS) is a phenotypically and genetically heterogeneous disorder
characterised by hearing loss and pigmentary abnormalities. We clarified the clinical and …
characterised by hearing loss and pigmentary abnormalities. We clarified the clinical and …
SOX10 mutations mimic isolated hearing loss
V Pingault, E Faubert, V Baral, S Gherbi… - Clinical …, 2015 - Wiley Online Library
Ninety genes have been identified to date that are involved in non‐syndromic hearing loss,
and more than 300 different forms of syndromic hearing impairment have been described …
and more than 300 different forms of syndromic hearing impairment have been described …
Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome
L Jiang, H Chen, W Jiang, Z Hu, L Mei, J Xue… - Biochemical and …, 2011 - Elsevier
Objective: We analyzed the clinical features and family-related gene mutations for the first
two Chinese cases of type IV Waardenburg syndrome (WS4). Methods: Two families were …
two Chinese cases of type IV Waardenburg syndrome (WS4). Methods: Two families were …
A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease
Y Sznajer, C Coldéa, F Meire, I Delpierre… - American Journal of …, 2008 - Wiley Online Library
Type 4 Waardenburg syndrome represents a well define entity caused by neural crest
derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and …
derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and …
A vestibular phenotype for Waardenburg syndrome?
FO Black, SC Pesznecker, K Allen… - Otology & …, 2001 - journals.lww.com
Interventions Evaluation for Waardenburg phenotype, history of vestibular and auditory
symptoms, tests of vestibular and auditory function. Main Outcome Measures Results of …
symptoms, tests of vestibular and auditory function. Main Outcome Measures Results of …
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