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1  to the understanding of the pathogenesis of Waardenburg syndrome.
2  in neural crest disorders in humans such as Waardenburg syndrome.
3 for the human auditory-pigmentation disorder Waardenburg syndrome.
4 r, like MITF, results in a disorder known as Waardenburg Syndrome.
5 e forelock phenotype similar to that seen in Waardenburg syndrome.
6 hensive mutation screen for individuals with Waardenburg syndrome.
7 port syndrome and the PAX3 and MITF genes in Waardenburg syndrome.
8 human K206Q MITF mutation is associated with Waardenburg syndrome.
9  of the transcriptional pathways affected in Waardenburg syndromes.
10                      However, reminiscent of Waardenburg syndrome, a neural crest disorder, Myo10(tm2
11 for the neural crest defects associated with Waardenburg syndrome, among others.
12                   Human PAX3 mutations cause Waardenburg syndrome and abnormalities of skin and retin
13 nital central hypoventilation syndrome, Shah-Waardenburg syndrome and cartilage-hair hypoplasia.
14  function underlies many disorders including Waardenburg syndrome and melanoma.
15 ultiple phenotypic disease) deafness such as Waardenburg syndrome and Usher 1B syndrome, little is kn
16 0% of which were syndromic (mainly Usher and Waardenburg syndromes) and 50.0% were nonsyndromic (main
17              In people, PAX3 mutation causes Waardenburg syndrome, and murine Pax3 is essential for p
18                     Hirschsprung disease and Waardenburg syndrome are human genetic diseases characte
19                                              Waardenburg syndromes are characterized by pigmentation
20 to the molecular mechanisms by which certain Waardenburg syndrome-associated missense mutations could
21 gastrointestinal motility disorders, whereas Waardenburg syndrome consists of defective melanocyte fu
22 ons responsible for Hirschsprung disease and Waardenburg syndrome have been identified, and some pati
23  genes have been identified as causative for Waardenburg syndrome; however, the genetic bases for all
24 factor for which deficiency in humans causes Waardenburg syndrome II.
25 may contribute to congenital hearing loss of Waardenburg syndrome in humans.
26  the human melanocyte and deafness condition Waardenburg syndrome is sometimes caused by haploinsuffi
27 nstrate that PAX3, which is often mutated in Waardenburg syndrome, is required for normal enteric gan
28 e that the dominant melanophore phenotype in Waardenburg syndrome IV individuals with SOX10 mutations
29                                              Waardenburg syndrome manifests hypopigmentation of the i
30                               One example is Waardenburg syndrome that can be caused by mutations in
31 horum, one of the key diagnostic features of Waardenburg syndrome type 1 (WS1).
32                                              Waardenburg syndrome type 1 is caused by mutations in PA
33                                              Waardenburg syndrome type 2 (WS2) is a dominantly inheri
34   Because mutations in MITF are causative of Waardenburg syndrome type 2 (WS2), we screened KITLG in
35  (microphthalmia transcription factor) cause Waardenburg syndrome type 2 (WS2A) in humans, an autosom
36             The deafness-pigmentary disorder Waardenburg Syndrome Type 2 is caused by mutations in th
37        MITF mutations occur in patients with Waardenburg syndrome type 2, a disorder associated with
38 tion with hypopigmentation are classified as Waardenburg syndrome type 4 (Waardenburg-Shah, WS4).
39                 Mutations in SOX10 result in Waardenburg syndrome type 4.
40 utations in SOX10 result in a severe form of Waardenburg syndrome, Type IV, also known as Waardenburg
41  such as in neural crest-derived cancers and Waardenburg syndrome types 1 and 3.
42                      Mutations in PAX3 cause Waardenburg syndrome (types 1 and 3), Craniofacial-deafn
43                                              Waardenburg syndrome typically manifests with congenital
44                            Family history of Waardenburg syndrome was elicited in 5 of 7 (71%) patien
45            In all patients, the diagnosis of Waardenburg syndrome was established.
46  In humans, mutations in the PAX3 gene cause Waardenburg syndrome, whereas a chromosomal translocatio
47     Rare variants in PAX3 are known to cause Waardenburg syndrome, which involves deafness, pigmentar
48 sociated with the pigmentary deficiencies of Waardenburg syndrome (WS) and is modeled in Sox10 haploi
49 cordance of a pair of monozygotic twins with Waardenburg syndrome (WS) and previous reports of simila
50                                              Waardenburg syndrome (WS) is a clinically and geneticall
51                                              Waardenburg syndrome (WS) is a hereditary disorder that
52        Mutations in PAX3 are associated with Waardenburg syndrome (WS), but the mechanism of how muta
53 ges in the PAX3 gene in patients with type 1 Waardenburg syndrome (WS1) including three in the paired
54 iency results in the mouse splotch and human Waardenburg syndrome (WSI and WSIII) phenotypes.