TY  - CHAP
M1  - Book, Section
TI  - Key Genetic Diseases, Disorders, and Syndromes
A1  - Schaefer, G. Bradley
A1  - Thompson, Jr., James N.
PY  - 2017
T2  - Medical Genetics: An Integrated Approach
AB  - As  we  have  worked  our  way  through  this  book  we  have  used  clinical  examples  as  much  as  possible  to  highlight  key  points.  The  examples  we  used  also  were  selected  for  their  relative  importance.  However,  not  all  important  conditions  to  know  were  discussed  in  this  text.  (The  conditions  specifically  mentioned  in  this  text  are  in  the  highlighted  [bold]  words  in  the  list  below.  For  the  medical  student  preparing  for  your  boards,  we  have  compiled  a  list  of  conditions  we  deem  "key."  We  would  suggest  that  you  know  in  detail  all  the  conditions  that  are  bolded.  For  all  others,  you  should  be  familiar  with  the  condition  and  its  key  features  and  be  able  to  describe  the  major  genetic  mechanism(s)  involved  in  the  disease.  Of  course  this  list  is  not  comprehensive.  It  is  our  "top  125."  There  are  many  other  conditions  that  may  appear  on  your  boards.  This  is,  however,  our  attempt  to  focus  on  what  we  see  as  some  of  the  conditions  to  highlight.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/18
UR  - accessmedicine.mhmedical.com/content.aspx?aid=1147721754
ER  -