Results 111 to 120 of about 3,568 (145)

Heterochromia caused by Waardenburg syndrome in a 2-month-old infant. [PDF]

CMAJ
Lin PA, Hung JH, Huang YH.
europepmc   +1 more source

[Mechanisms of enhanced noise susceptibility in waardenburg syndrome <i>Sox10 p.S100Rfs*9</i> mutant mice]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Xiao Y, Li L, Lin K, Su D, Gao Y, Ma J, Zhang T.   +6 more
europepmc   +1 more source

Concurrent Cardiac and Renal Anomalies in Waardenburg Syndrome Type 1: A Report of a Rare Case. [PDF]

Cureus
Awashra A, Nouri A, Zidan T, Sawalma A, Milhem FS, Marbo' D.   +5 more
europepmc   +1 more source

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report. [PDF]

BMC Med Genomics
Li Y, Chen Y, Sun Y, Li S, Dong L, Li Z, Shen G.   +6 more
europepmc   +1 more source

A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II. [PDF]

Mol Genet Genomic Med
Ma X, Zhao L, Li L, Li X, Ding C, Ma J.
europepmc   +1 more source

When color matters: Waardenburg syndrome

Indian Journal of Ophthalmology, 2019
Tarjani V Dave, Rajeev R Pappuru, Vivek P Dave   +2 more
doaj   +1 more source

PAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome. [PDF]

G3 (Bethesda)
Rudd Garces G, Farke D, Schmidt MJ, Letko A, Schirl K, Abitbol M, Leeb T, Lyons LA, Lühken G.   +8 more
europepmc   +1 more source

Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome. [PDF]

Mol Syndromol
Graziani L, Carriero ML, Pozzi F, Minotti C, Andreadi A, Bellia A, Ruta R, Bengala M, Novelli A, Lauro D, Novelli G.   +10 more
europepmc   +1 more source

Waardenburg Syndrome Type 2 in Paediatrics: A Case Highlighting Diagnostic Complexities and the Efficacy of Cochlear Implantation. [PDF]

Indian J Otolaryngol Head Neck Surg
Kumar S, Natraj R, Dutta A.
europepmc   +1 more source

Waardenburg′s syndrome

Indian Journal of Ophthalmology, 1979
Boparai M, Sohi Balinder, Sohi A
doaj