Virginia P Sybert
Affiliation: University of Washington
- Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1V P Sybert
Departments of Pediatrics, University of Washington School of Medicine, Children s Hospital and Medical Center, Division of Dermatology, CH 25, 4800 Sand Point Way NE, P O Box 5371, Seattle, WA 98105, USA Julie S
Am J Hum Genet 64:732-8. 1999..These findings reveal that a clinical phenotype distinct from classic BCIE but with similar histology can result from K1 mutations and that mutations at this codon give rise to a clinically unique condition...
- Genetic counseling in epidermolysis bullosaVirginia P Sybert
Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA
Dermatol Clin 28:239-43, viii. 2010..The genetic counselor needs to be informed and informative and answer all the needs of the patients and their families reliably both at the initial consultation and subsequently as needed over the course of the patient's life...
- Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichiaAmy Y Jan
Division of Dermatology, Department of Medicine, University of Washington, Seattle, WA, USA
J Invest Dermatol 122:1108-13. 2004..3, and Cx31, may be required...
- Phenotype and X inactivation in 45,X/46,X,r(X) casesKathleen A Leppig
Genetic Services, Group Health Permanente, Seattle, Washington 98112, USA
Am J Med Genet A 128:276-84. 2004....
- Hereditary woolly hair and keratosis pilarisAndy J Chien
Division of Dermatology, University of Washington, Seattle, Washington, USA
J Am Acad Dermatol 54:S35-9. 2006..Woolly hair elicits a broad differential diagnosis, including woolly hair nevus and several genodermatoses. Our report reviews the evaluation of woolly hair and discusses the conditions associated with this physical finding...