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Author7 Posts
  #1

Hi, can anyone help me list out the important X-linked dominant disorders relevant to the usmle exam. The only one i know is hypophosphatemic rickets. Vitamin D resistant rickets and Rett's syndrome


Edited by jonathon on 01/21/06 - 06:21 PM

  #2

Alports Syndrome
Ornithine transcarbamoylase
Charcot-Marie tooth disease X-linked dominant type

  #3

found in HY embrio-appemdix-->Goltz Sd. , Incontinentia pigmenti , Orofaciodigital Sd.




  #4

Fragile X

  #5

Fragile X syndrome has X-Linked recessive inheritance

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  #6

Alport''s syndrome is a heterogeneous disorder made up of a number of genetically distinct syndromes, with an autosomal dominant, an X-linked dominant and a rare autosomal recessive form.

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  #7

pyruvate dehydrogenase deficiency as the most common biochemical cause of congenital lactic acidosis







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