Enefermedades AD
Authored by Jose Meza
Science
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13 questions
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1.
MULTIPLE CHOICE QUESTION
30 sec • 1 pt
Es la forma mas comun de estatura baja desproporcionada heredada:
Sx de klinefelter
Hipercolesterolemia famililar
Fibrosis quistica
Acondroplasia
2.
FILL IN THE BLANK QUESTION
1 min • 1 pt
Cual es la mutacion en la acondroplasia
3.
FILL IN THE BLANK QUESTION
1 min • 1 pt
Cual es la fisiopatologia molecular de acondroplasia
4.
FILL IN THE BLANK QUESTION
1 min • 1 pt
Cuales son los modificadores de la herencia presentes en la acondroplasia?
5.
FILL IN THE BLANK QUESTION
1 min • 1 pt
Cual es el cuadro clinico de la acondropalsia
6.
FILL IN THE BLANK QUESTION
1 min • 1 pt
Dismorfias frecuentes en acondroplasia:
7.
MULTIPLE CHOICE QUESTION
30 sec • 1 pt
Cual es la prueba genetica adecuada para el dx de acondroplasia?
SNG
Cariotipo
FISH
PCR
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