Disorders Of Pigmentation-abdul

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Questions and Answers
  • 1. 
    What is the defective gene in Oculocutaneous Albinism Type II?
    • A. 

      P gene

    • B. 

      TYR

    • C. 

      TRYP-1

    • D. 

      MATP

  • 2. 
    What is the defective gene in Griscelli syndrome:
    • A. 

      LYST

    • B. 

      PAX3

    • C. 

      SOX10

    • D. 

      Myosin Va

  • 3. 
    Which type of Waardenburg disease presents with Hirschsprung disease?
    • A. 

      Type 1

    • B. 

      Type 2

    • C. 

      Type 3

    • D. 

      Type 4

    • E. 

      Type 5

  • 4. 
    A patient presents to you with Polyostotic fibrous dysplasia, Precocious puberty and a large segmental café au lait macules with ‘’ Coast of Maine ‘’ border. What is the Gene involved?
    • A. 

      SCH

    • B. 

      TSC1

    • C. 

      TSC2

    • D. 

      GNAS1

    • E. 

      PRKAR1A

  • 5. 
    All of the following are part of the diagnostic criteria of NF-1 except:
    • A. 

      First degree relative with NF

    • B. 

      Optic glioma

    • C. 

      Six or more Neurofibromas

    • D. 

      One plexiform Neurofibroma

    • E. 

      Sphenoid wing dysplasia

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