All are the feature (s) of Hermansky-pudlak syndrome except:
Correct Answer: Autosomal dominant inheritance
Description: Answer- A. Autosomal dominant inheritanceIt is a rare autosomal recessive disorder which results in oculocutaneous albinism, bleeding problems due to a platelet abnormality (platelet dysfunction), storage of an abnormal fat-protein compound.Chromosome 10q23 is affected.There are eight classic forms of the disorder in which last type of disorder is due to gene Pallidin (PLDN)The major complication of the disorder is pulmonary fibrosis.
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Pathology
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