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Waardenburg syndrome

Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.

Abnormality of the skin

An abnormality of the skin.

Total: 1

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PMID (PMCID)
24715709	FEMALE
	Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10.
	Jelena B, Christina L, Eric V, Fabiola QR. Am J Med Genet A. 2014;164A(6):1512-9.
	Waardenburg syndrome (WS) is a neurocristopathy characterized by pigmentation abnormalities of the skin, hair, and iris, as well as sensorineural hearing loss.