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Hermansky-Pudlak syndrome

Pronunciation: har-mon'ske pud'lok

Definition: a form of oculocutaneous albinism (autosomal recessive) with accumulation of ceroid in lysosomes with restrictive lung disease, granulomatous colitis, kidney failure, cardiomyopathy, and storage pool-deficient platelets.

[F. Hermansky, P. Pudlak]

See Also: oculocutaneous albinism

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.