Disorders Of Pigmentation-abdul
5 Questions
| Total Attempts: 1016
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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