Hermansky-pudlak syndrome is a rare genetic disorder caused by gene mutations. Read this article to learn about Hermansky-pudlak syndrome.
Hermansky-Pudlak Syndrome is "autosomal recessive," which means that both parents have to be carriers for the condition to develop. This Article Improved My Health Changed My Life Saved My Life The condition earned its name from the two doctors who cared for the first two patients identified in...
Type 2 albinism: People with Type 2 albinism usually have some pigmentation; this type is caused by a defect in a gene called the "P gene. Hermansky-Pudlak syndrome (HPS): A different defective gene causes Hermansky-Pudlak syndrome, which is a form of albinism characterized by easy bruising...
Pulmonary Function and High-Resolution CT Findings in Patients With an Inherited Form of Pulmonary Fibrosis, Hermansky-Pudlak Syndrome, Due to Mutations in... fibrosispulmonaryfunctiontestscDNA=Objective To describe and correlate pulmonary functionand high-resolution CT (HRCT) scan scores in individuals ...
Hermansky-Pudlak Syndrome - Causes, Symptoms, Diagnosis, and Treatment Lysosomal Storage Diseases - Etiology, Types, Symptoms, Diagnosis, And Treatment Ask your health query to a doctor online General Medicine *guaranteed answer within 4 hours Disclaimer: No content published on this website is inten...
2. Ten New Cases of Hermansky-Pudlak Syndrome in the Iberian Peninsula: Identification of Novel Genetic Variants in HPS3, HPS4, HPS6 and DTNBP1 Associated with Significant Clinical Complications [J] . Maria Bastida Jose, Morais Sara, Palma-Barqueros Veronica, Blood: The Journal of the Amer...
HPSHermansky-Pudlak Syndrome(type of albinism) HPSHartford Public Schools(Hartford, CT) HPSHuman Patient Simulator HPSHomelessness Partnering Strategy(Human Resources and Skills Development Canada) HPSHemophagocytic Syndrome(immune system disorder)
What Is Hermansky-Pudlak Syndrome? What Is the Treatment for Mosaic Turner Syndrome? What is Cleidocranial Dysplasia? What is a Nonsense Mutation? What is Mutation Rate? What is Genetic Counseling? What is Malaria? Discussion Comments Byanon969754— On Sep 12, 2014 ...
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