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Quoted phrase not found in phrase index: "Blepharocheilodontic syndrome 2"
Page 1
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.
Genet Med. 2017 Sep;19(9):1013-1021. doi: 10.1038/gim.2017.11. Epub 2017 Mar 16.
Genet Med. 2017.
PMID: 28301459
Free article.
Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.
Weaver KN, Rutledge KD, Grant JH, Robin NH.
Weaver KN, et al.
Am J Med Genet A. 2010 Feb;152A(2):438-40. doi: 10.1002/ajmg.a.33207.
Am J Med Genet A. 2010.
PMID: 20101698
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West Nile Neuroinvasive Disease Presenting as Elsberg Syndrome.
Hawkes MA, Toledano M, Kaufmann TJ, Rabinstein AA.
Hawkes MA, et al.
Neurologist. 2018 Sep;23(5):152-154. doi: 10.1097/NRL.0000000000000189.
Neurologist. 2018.
PMID: 30169366
INTRODUCTION: Elsberg syndrome (ES) is a rarely recognized cause of cauda equina syndrome and lower thoracic myelitis, mainly linked to reactivation, or occasionally primary, infection with herpes simplex virus type 2. West Nile virus neuroinvasive disease is rarely consid …
INTRODUCTION: Elsberg syndrome (ES) is a rarely recognized cause of cauda equina syndrome and lower thoracic myelitis, mainly linked to reac …
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