J

 

Jackson-Weiss sendromu

Kalıtsal - AD

Kraniyosinostozis

Yüz orta bölüm hipoplazisi

Parmak anomalileri

 

  • Jackson CE, Weiss L, Reynolds WA, et al. Craniosynostosis midfacial hypoplasia, and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred. Journal of Pediatrics, 88: 963-968, 1976

  • Lewanda AF, Cohen MM Jr, Jackson CE, et al. Genetic heterogeneity among Craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. Genomics, 19: 115-119, 1994

  • Heike C, Seto M, Hing A, et al. Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in 'lost' descendants of the original kindred. American Journal of Medical Genetics, 100: 315-324, 2001