RT Book, Section
A1 Tlougan, Brook E.
A1 Paller, Amy S.
A2 Rudolph, Colin D.
A2 Rudolph, Abraham M.
A2 Lister, George E.
A2 First, Lewis R.
A2 Gershon, Anne A.
SR Print(0)
ID 7032841
T1 Chapter 360. Genetic Disorders of the Skin
T2 Rudolph's Pediatrics, 22e
YR 2011
FD 2011
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-149723-7
LK accesspediatrics.mhmedical.com/content.aspx?aid=7032841
RD 2024/04/23
AB During  the  last  decade,  our  understanding  of  the  molecular  bases  for  genetic  disorders  of  the  skin  has  expanded  tremendously.  Identifying  the  gene  mutations  that  lead  to  phenotypic  manifestations  facilitates  prenatal  diagnosis  using  molecular  techniques.  For  some  disorders,  this  information  has  translated  into  early  trials  of  gene  therapy  or  the  development  of  new  pharmacologic  therapy  based  on  manipulation  of  gene  product  levels.  Several  support  groups  that  provide  education  for  patients  and  physicians  are  available  and  are  listed  for  each  subgroup  of  genetic  disorders  of  skin.  The  National  Organization  for  Rare  Disorders  (NORD)  at  http://www.rarediseases.org  can  also  help  families  for  whom  there  is  no  specific  support  group.  More  information  about  specific  genetic  disorders  can  be  found  at  http://www.ncbi.nih.gov/sites/entrez?db=OMIM  and  about  the  availability  of  genetic  testing  at  http://www.genetests.org.