1
|
Yang T, Li X, Huang Q, Li L, Chai Y, Sun
L, Wang X, Zhu Y, Wang Z, Huang Z, et al: Double heterozygous
mutations of MITF and PAX3 result in Waardenburg syndrome with
increased penetrance in pigmentary defects. Clin Genet. 83:78–82.
2013. View Article : Google Scholar : PubMed/NCBI
|
2
|
Read AP and Newton VE: Waardenburg
syndrome. J Med Genet. 34:656–665. 1997. View Article : Google Scholar : PubMed/NCBI
|
3
|
Wang J, Li S, Xiao X, Wang P, Guo X and
Zhang Q: PAX3 mutations and clinical characteristics in Chinese
patients with Waardenburg syndrome type 1. Mol Vis. 16:1146–1153.
2010.PubMed/NCBI
|
4
|
Wildhardt G, Zirn B, Graul-Neumann LM,
Wechtenbruch J, Suckfüll M, Buske A, Bohring A, Kubisch C, Vogt S,
Strobl-Wildemann G, et al: Spectrum of novel mutations found in
Waardenburg syndrome types 1 and 2 Implications for molecular
genetic diagnostics. BMJ Open. 3:e0019172013. View Article : Google Scholar : PubMed/NCBI
|
5
|
Kapoor S, Bindu PS, Taly AB, Sinha S,
Gayathri N, Rani SV, Chandak GR and Kumar A: Genetic analysis of an
Indian family with members affected with Waardenburg syndrome and
Duchenne muscular dystrophy. Mol Vis. 18:2022–2032. 2012.PubMed/NCBI
|
6
|
Yang SZ, Dai P, Liu X, Kang DY, Zhang X,
Yang WY, Zhou CY, Yang SM and Yuan HJ: Genetic and phenotypic
heterogeneity in Chinese patients with Waardenburg syndrome types
II. PLoS One. 8:e771492013. View Article : Google Scholar : PubMed/NCBI
|
7
|
Pingault V, Ente D, Dastot-Le Moal F,
Goossens M, Marlin S and Bondurand N: Review and update of
mutations causing Waardenburg syndrome. Hum Mutat. 31:391–406.
2010. View Article : Google Scholar : PubMed/NCBI
|
8
|
Chaoui A, Watanabe Y, Touraine R, Baral V,
Goossens M, Pingault V and Bondurand N: Identification and
functional analysis of SOX10 missense mutations in different
subtypes of Waardenburg syndrome. Hum Mutat. 32:1436–1449. 2011.
View Article : Google Scholar : PubMed/NCBI
|
9
|
Iso M, Fukami M, Horikawa R, Azuma N,
Kawashiro N and Ogata T: SOX10 mutation in Waardenburg syndrome
type II. Am J Med Genet A. 146A:2162–2163. 2008. View Article : Google Scholar : PubMed/NCBI
|
10
|
Zhang H, Luo H, Chen H, Mei L, He C, Jiang
L, Li JD and Feng Y: Functional analysis of MITF gene mutations
associated with Waardenburg syndrome type 2. FEBS Lett.
586:4126–4131. 2012. View Article : Google Scholar : PubMed/NCBI
|
11
|
Wei XM, Jin F, Ye YH, Xu CM, Qu N, Ju XC
and Yi X: A novel mutation of IDS gene in a Chinese patient with
mucopolysaccharidosis II by next-generation sequencing. Clinica
Chimica Acta. 412:2340–2343. 2011. View Article : Google Scholar
|
12
|
Wei X, Ju X, Yi X, Zhu Q, Qu N, Liu T,
Chen Y, Jiang H, Yang G, Zhen R, et al: Identification of sequence
variants in genetic disease-causing genes using targeted
next-generation sequencing. PLoS One. 6:e295002011. View Article : Google Scholar : PubMed/NCBI
|
13
|
Li H and Durbin R: Fast and accurate
long-read alignment with Burrows-Wheeler transform. Bioinformatics.
26:589–595. 2010. View Article : Google Scholar : PubMed/NCBI
|
14
|
Farrer LA, Grundfast KM, Amos J, Arnos KS,
Asher JH Jr, Beighton P, Diehl SR, Fex J, Foy C, Friedman TB, et
al: Waardenburg syndrome (WS) type I is caused by defects at
multiple loci, one of which is near ALPP on chromosome: 2 First
report of the WS consortium. Am J Hum Genet. 50:902–913.
1992.PubMed/NCBI
|