Links

Chediak-Higashi Syndrome Association

A Division of the HPS Network Inc.
www.chediak-higashi.org
Genetic Alliance
www.geneticalliance.org
National Organization for Albinism and Hypopigmentation

www.albinism.org
National Organization of Rare Disorders
www.rarediseases.org
National Institute of Health

www.nih.gov

Reference


King R.A., Hearing V.J., Creel D., Oetting W.S., 1995, Albinism, in The Metabolic and Molecular Basis of Inherited Disease, 7th edition, Scriver CR, Beaudet AL, Sly WS, Valle D (eds), McGraw Hill, New York, pp. 4353?4392.

Wildenberg S.C., Oetting W.S., Almadovar C., Krumwiede M., White J.G., King R.A., 1995, The gene causing Hermansky-Pudlak Syndrome in a Puerto Rican population maps to Chromosome 10q2, Am. J. Hum. Genet. 57:755?765.

Brantly, M., Avila, N., Shotelersuk, V., Lucero, C., Hutzing, M., Gahl, W., Pulomonary Function and High-Resolution CT Findings in Patients With an Inherited Form of Pulmonary Fibrosis, Hermansky-Pudlak Syndrome, Due to Mutations in HPS-1, CHEST 2000, Vol. 117, pp.129-136.

Mahadeo, R., Markowitz, J., Fisher, S., Daum., F., Hermansky-Pudlak Syndrome with Granulomatous Colitis in Children, Journal of Pediatrics, 1991,118,pp. 904-6.

Shotelersuk, V., Hazelwood, S., Larson, D., Iwata, F., Kaiser-Kupfer, M., Kuehl, E., Bernardini, I., Gahl, W., Three New Mutations in a Gene Causing Hermansky-Pudlak Syndrome: Clinical Correlations, Molecular Gentics and Metabolism, 1998, 64, 99-107.

Shotelersuk, V., Gahl, W., MINIREVIEW: Hermansky-Pudlak Syndrome: Models for Intracellular Vesicle Formation, Molecular Genetics and Metabolism, 1998, 65, 85-96.

Gahl, W., Brantly, M., Kaiser-Kupfer, M., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L.,

Kuehl, E., Troendale, J., Bernardini, I., Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutanteous Albinism (Hermansky-Pudlak Syndrome), New England Journal of Medicine, 1998, 338, 1258-1264.

Price, S., & Wilson, L., (1978). Coagulation. Pathophysiology: Clinical Concepts of Disease Processes, pp. 183-189.

Witkop, C. et.al., (1987). Reliability of Absent Platelet Dense Bodies as a Diagnostic Criterion for Hermansky-Pudlak Syndrome. American Journal of Hematology 26:305-311.