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A genome-wide association study reveals a locus for bilateral iridal hypopigmentation in Holstein Friesian cattle.
BMC Genet
March 2017
Institute of Veterinary Medicine, University of Goettingen, Burckhardtweg 2, 37077, Goettingen, Germany.
Background: Eye pigmentation abnormalities in cattle are often related to albinism, Chediak-Higashi or Tietz like syndrome. However, mutations only affecting pigmentation of coat color and eye have also been described. Herein 18 Holstein Friesian cattle affected by bicolored and hypopigmented irises have been investigated.
View Article and Find Full Text PDFClinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus.
Am J Med Genet A
October 2009
Department of Pediatric Genetics, Cerrahpaşa Medical Faculty, Istanbul University, Istanbul, Turkey.
Waardenburg-Shah syndrome (Waardenburg syndrome type IV-WS4) is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, sensorineural hearing loss, and Hirschsprung disease (HSCR). Mutations in the endothelin-B receptor (EDNRB) gene on 13q22 have been found to cause this syndrome. Mutations in both alleles cause the full phenotype, while heterozygous mutations cause isolated HSCR or HSCR with minor pigmentary anomalies and/or sensorineural deafness.
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