J Sun, Z Hao, H Luo, C He, L Mei, Y Liu… - Journal of Human …, 2017 - nature.com
Waardenburg syndrome (WS) is an autosomal dominant inherited neurogenic disorder with the combination of various degrees of sensorineural deafness and pigmentary abnormalities …
J Chen, SZ Yang, J Liu, B Han, GJ Wang… - Yi Chuan …, 2008 - europepmc.org
Warrgenburg syndrome type 2 (WS2) is the most common autosomal dominantly-inherited syndrome with hearing loss. MITF (microphthalmia associated transcription factor) is a basic …
X Yan, T Zhang, Z Wang, YI Jiang, Y Chen… - Journal of Genetics and …, 2011 - Elsevier
Waardenburg syndrome type II (WS2) is associated with syndromic deafness. A subset of WS2, WS2A, accounting for approximately 15% of patients, is attributed to mutations in the …
Y Shi, X Li, D Ju, Y Li, X Zhang… - Experimental and …, 2016 - spandidos-publications.com
Waardenburg syndrome (WS) is an autosomal dominant disorder with varying degrees of sensorineural hearing loss, and accumulation of pigmentation in hair, skin and iris. There …
XP Wang, YL Liu, LY Mei, CF He, ZJ Niu… - Journal of human …, 2018 - nature.com
Mutation in the gene encoding microphthalmia-associated transcription factor (MITF) lead to Waardenburg syndrome 2 (WS2), an autosomal dominantly inherited syndrome with …
M Tassabehji, VE Newton, AP Read - Nature genetics, 1994 - nature.com
Abstract Waardenburg syndrome type 2 (WS2) is a dominantly inherited syndrome of hearing loss and pigmentary disturbances. We recently mapped a WS2 gene to …
C Verastegui, K Bille, JP Ortonne, R Ballotti - Journal of Biological …, 2000 - ASBMB
The absence of melanocytes from the cochlea and epidermis is responsible of deafness and hypopigmentation, two symptoms shared by the four Waardenburg syndrome (WS) …
S Yang, P Dai, X Liu, D Kang, X Zhang, W Yang… - Plos one, 2013 - journals.plos.org
Waardenburg Syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin …
S Yokoyama, K Takeda, S Shibahara - Journal of biochemistry, 2006 - academic.oup.com
Waardenburg syndrome (WS) is an inherited disorder, characterized by auditory-pigmentary abnormalities. SOX10 transcription factor and endothelin receptor type B (EDNRB) are …