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Jul 30, 2001 · Waardenburg syndrome type I (WS1) is an auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin along with dystopia canthorum (lateral displacement of the inner canthi).
- Table 4
A novel mutation in the PAX3 gene causes Waardenburg...
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Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews®...
- Genes and Disease
The main characteristics of Waardenburg syndrome (WS)...
- PubMed
Waardenburg syndrome (WS), also known as auditory-pigmentary...
- Table 4
Feb 25, 2021 · BMC Medical Genomics (2022) Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of syndromic hearing loss (HL), which accounts for...
- Sida Huang, Jian Song, Chufeng He, Xinzhang Cai, Kai Yuan, Lingyun Mei, Yong Feng, Yong Feng
- 2021
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What is Waardenburg syndrome?
Is Waardenburg syndrome autosomal dominant?
Who inherits Waardenburg syndrome?
Jul 1, 2017 · Waardenburg syndrome (WS), coined by Dutch ophthalmologist Petrus Johannes Waardenburg, is a neurocristopathy composed of hearing impairment (HI) and pigmentary abnormalities of eyes, skin and hair ( 1 ). The syndrome is clinically and genetically heterogeneous, and follows an autosomal dominant mode of inheritance.
- Nazanin Jalilian, Mohammad Amin Tabatabaiefar, Mahboubeh Yazdanpanah, Elham Darabi, Tayyeb Bahrami, ...
- 10.22088/IJMCM.BUMS.7.1.17
- 2018
- Int J Mol Cell Med. 2018 Winter; 7(1): 17-23.
Jul 31, 2019 · Waardenburg syndrome (WS) is a rare autosomal dominant disorder with four diverse subtypes. The four subtypes of WS are generally characterized by a wide range of key clinical features including pigmentation defects and craniofacial dysmorphic features ( Pardono et al., 2003. ).
Aug 15, 2022 · Waardenburg syndrome is a genetic condition that affects the coloring (pigmentation) of your skin, hair and eyes. This condition can also cause hearing loss. In rare cases, Waardenburg syndrome can cause constipation or intestinal blockages. Treatment is available to alleviate symptoms but isn’t necessary for all types of the condition.
