RT Book, Section
A1 Huynh, Thy N.
A1 Paller, Amy S.
A2 Kline, Mark W.
SR Print(0)
ID 1182905280
T1 Genetic Disorders of the Skin
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=1182905280
RD 2022/08/18
AB Over  the  past  2  decades,  our  understanding  of  the  molecular  basis  for  genetic  disorders  of  the  skin  has  expanded  tremendously.  Identifying  the  gene  mutations  that  lead  to  phenotypic  manifestations  facilitates  prenatal  and  preimplantation  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;  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  the  National  Institutes  of  Health  Online  Mendelian  Inheritance  in  Man  Web  site  (http://www.ncbi.nlm.nih.gov/omim)  and  the  availability  of  genetic  testing  at  GeneTests  (http://www.genetests.org)  or  commercial  sites,  such  as  GeneDx.org  and  CompleteGenomics.com.