Arts H, Knoers N. Cranioectodermal Dysplasia. 2013 Sep 12 [updated 2018 Apr12]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK154653/
Liem KF Jr, Ashe A, He M, Satir P, Moran J, Beier D, Wicking C, Anderson KV.The IFT-A complex regulates Shh signaling through cilia structure and membraneprotein trafficking. J Cell Biol. 2012 Jun 11;197(6):789-800. doi:10.1083/jcb.201110049.
Qin J, Lin Y, Norman RX, Ko HW, Eggenschwiler JT. Intraflagellar transportprotein 122 antagonizes Sonic Hedgehog signaling and controls ciliarylocalization of pathway components. Proc Natl Acad Sci U S A. 2011 Jan25;108(4):1456-61. doi: 10.1073/pnas.1011410108.
Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C,Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M,Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW.Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused bymutations in the IFT122 gene. Am J Hum Genet. 2010 Jun 11;86(6):949-56. doi:10.1016/j.ajhg.2010.04.012.
Contributor
MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register
: Dean Liu
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?