|
1
|
Otman SG and Abdelhamid NI: Waardenburg
syndrome type 2 in an African patient. Indian J Dermatol Venereol
Leprol. 71:426–427. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Morín M, Viñuela A, Rivera T, Villamar M,
Moreno Pelayo MA, Moreno F and Del Castillo I: A de novo missense
mutation in the gene encoding the SOX10 transcription factor in a
Spanish sporadic case of Waardenburg syndrome type IV. Am J Med
Genet A. 146A:1032–1037. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Cullen RD, Zdanski C, Roush P, Brown C,
Teagle H, Pillsbury HR III and Buchman C: Cochlear implants in
Waardenburg syndrome. Laryngoscope. 116:1273–1275. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Bondurand N, Dastot-Le MF, Stanchina L,
Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski
L, Reardon W, et al: Deletions at the SOX10 gene locus cause
Waardenburg syndrome types 2 and 4. Am J Hum Genet. 81:1169–1185.
2007. View
Article : Google Scholar : PubMed/NCBI
|
|
5
|
Pingault V, Ente D, Dastot-Le MF, 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
|
|
6
|
Ma J, Zhang T, Lin K, Sun H, Jiang HC,
Yang YL, Low F, Gao YQ and Ruan B: Waardenburg syndrome type II in
a Chinese patient caused by a novel nonsense mutation in the SOX10
gene. Int J Pediatr Otorhinolaryngol. 85:56–61. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Wang K, Li M and Hakonarson H: ANNOVAR:
Functional annotation of genetic variants from high-throughput
sequencing data. Nucleic Acids Res. 38:e1642010. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Unzicker A, Pingault V, Meyer T, Rauthe S,
Schütz A and Kunzmann S: A novel SOX10 mutation in a patient with
PCWH who developed hypoxic-ischemic encephalopathy after E. coli
sepsis. Eur J Pediatr. 170:1475–1480. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Kuhlbrodt K, Herbarth B, Sock E,
Hermans-Borgmeyer I and Wegner M: Sox10, a novel transcriptional
modulator in glial cells. J Neurosci. 18:237–250. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Chen K, Zong L, Liu M, Zhan Y, Wu X, Zou W
and Jiang H: De novo dominant mutation of SOX10 gene in a Chinese
family with Waardenburg syndrome type II. Int J Pediatr
Otorhinolaryngol. 78:926–929. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Huang XF, Xiang P, Chen J, Xing DJ, Huang
N, Min Q, Gu F, Tong Y, Pang CP, Qu J and Jin ZB: Targeted exome
sequencing identified novel USH2A mutations in Usher syndrome
families. PLoS One. 8:e638322013. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Li H and Durbin R: Fast and accurate short
read alignment with Burrows-Wheeler transform. Bioinformatics.
25:1754–1760. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Milunsky JM: Waardenburg syndrome type I.
GeneReviews. In. 2017.
|
|
14
|
Tabor D: Waardenburg syndrome. DermNet NZ.
In. 2015.
|
|
15
|
Richards S, Aziz N, Bale S, Bick D, Das S,
Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al:
Standards and guidelines for the interpretation of sequence
variants: A joint consensus recommendation of the American college
of medical genetics and genomics and the association for molecular
pathology. Genet Med. 17:405–424. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Kochhar A, Hildebrand MS and Smith RJ:
Clinical aspects of hereditary hearing loss. Genet Med. 9:393–408.
2007. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Bondurand N, Dastot-Le MF, Stanchina L,
Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski
L, Reardon W, et al: Deletions at the SOX10 gene locus cause
Waardenburg syndrome types 2 and 4. Am J Hum Genet. 81:1169–1185.
2007. View
Article : Google Scholar : PubMed/NCBI
|
|
18
|
Harris ML, Baxter LL, Loftus SK and Pavan
WJ: Sox proteins in melanocyte development and melanoma. Pigment
Cell Melanoma Res. 23:496–513. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Schreiner S, Cossais F, Fischer K, Scholz
S, Bösl MR, Holtmann B, Sendtner M and Wegner M: Hypomorphic Sox10
alleles reveal novel protein functions and unravel developmental
differences in glial lineages. Development. 134:3271–3281. 2007.
View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Murisier F, Guichard S and Beermann F: The
tyrosinase enhancer is activated by Sox10 and Mitf in mouse
melanocytes. Pigment Cell Res. 20:173–184. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Hou L, Arnheiter H and Pavan WJ:
Interspecies difference in the regulation of melanocyte development
by SOX10 and MITF. Proc Natl Acad Sci USA. 103:9081–9085. 2006.
View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Inoue K, Khajavi M, Ohyama T, Hirabayashi
S, Wilson J, Reggin JD, Mancias P, Butler IJ, Wilkinson MF, Wegner
M and Lupski JR: Molecular mechanism for distinct neurological
phenotypes conveyed by allelic truncating mutations. Nat Genet.
36:361–369. 2004. View
Article : Google Scholar : PubMed/NCBI
|
|
23
|
Pingault V, Guiochon-Mantel A, Bondurand
N, Faure C, Lacroix C, Lyonnet S, Goossens M and Landrieu P:
Peripheral neuropathy with hypomyelination, chronic intestinal
pseudo-obstruction and deafness: A developmental ‘neural crest
syndrome’ related to a SOX10 mutation. Ann Neurol. 48:671–676.
2000. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Chen J, Yang SZ, Liu J, Han B, Wang GJ,
Zhang X, Kang DY, Dai P, Young WY and Yuan HJ: Mutation screening
of MITF gene in patients with Waardenburg syndrome type 2. Yi
Chuan. 30:433–438. 2008.(In Chinese). View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Lalwani AK, Attaie A, Randolph FT,
Deshmukh D, Wang C, Mhatre A and Wilcox E: Point mutation in the
MITF gene causing Waardenburg syndrome type II in a
three-generation Indian family. Am J Med Genet. 80:406–409. 1998.
View Article : Google Scholar : PubMed/NCBI
|
