RT Book, Section
A1 Dhar, Shweta U.
A1 Russo, Melissa
A2 Kline, Mark W.
SR Print(0)
ID 1182931401
T1 Connective Tissue Disorders
T2 Rudolph's Pediatrics, 23e
YR 2018
FD 2018
PB McGraw-Hill Education
PP New York, NY
SN 9781259588594
LK accesspediatrics.mhmedical.com/content.aspx?aid=1182931401
RD 2024/04/25
AB Connective  tissue  provides  form,  strength,  and  support  to  different  parts  of  the  body.  It  also  serves  as  a  medium  for  cellular  transport  as  well  as  storage  and  exchange  of  nutrients.  It  is  made  up  of  dozens  of  proteins  constituting  either  the  extracellular  fibers,  amorphous  matrix  called  ground  substance,  or  the  cellular  network.  The  most  abundant  extracellular  fibers  are  composed  of  the  protein  collagen,  which  is  also  the  most  abundant  protein  found  in  the  human  body.  Pathogenic  variants  in  genes  encoding  the  collagen  proteins  cause  diseases  such  as  Ehlers-Danlos  syndrome,  Stickler  syndrome,  and  osteogenesis  imperfecta.  Other  extracellular  fibers  consist  of  an  amorphous  protein  called  elastin,  which  is  ensheathed  in  strong  microfibrils  composed  of  the  protein  fibrillin.  Pathogenic  variants  in  the  gene  encoding  fibrillin-1  are  associated  with  Marfan  syndrome.