TY  - CHAP
M1  - Book, Section
TI  - Heritable Disorders of Connective Tissue
A1  - Prockop, Darwin J.
A1  - Bateman, John F.
A2  - Jameson, J. Larry
A2  - Fauci, Anthony S.
A2  - Kasper, Dennis L.
A2  - Hauser, Stephen L.
A2  - Longo, Dan L.
A2  - Loscalzo, Joseph
Y1  - 2018
N1  - 
T2  - Harrison's Principles of Internal Medicine, 20e
AB  - Some  of  the  most  common  conditions  that  are  transmitted  genetically  in  families  are  disorders  that  produce  clinically  obvious  changes  in  the  skeleton,  skin,  or  other  relatively  acellular  tissues  that  have  been  loosely  defined  as  connective  tissues.  Because  of  their  heritability,  some  of  the  disorders  were  recognized  as  potentially  traceable  to  mutated  genes  soon  after  the  principles  of  genetics  were  introduced  into  medicine  by  Garrod  and  others.  About  half  a  century  later,  McKusick  emphasized  the  specificity  of  many  of  the  diseases  for  selective  connective  tissues  and  suggested  that  they  were  probably  caused  by  mutations  in  genes  coding  for  the  major  proteins  found  in  those  tissues.  In  the  last  several  decades,  many  of  the  disorders  have  been  linked  to  mutations  in  several  hundred  different  genes  expressed  in  connective  tissues.  However,  classifying  the  disorders  on  the  basis  of  either  their  clinical  presentations  or  the  mutations  causing  them  is  continuing  to  present  a  challenge  for  both  the  clinician  and  the  molecular  biologist.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/20
UR  - accesspharmacy.mhmedical.com/content.aspx?aid=1160017759
ER  -