Literature DB >> 15472996

Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: new syndromic spectrum?

Benjamin D Lemire, J R Buncic, Shelley J Kennedy, Sarah J Dyack, Ahmad S Teebi.   

Abstract

Entities:  

Mesh：

Year:  2004        PMID： 15472996     DOI： 10.1002/ajmg.a.30341

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  5 in total

1.  Congenital Mydriasis: Diagnostic Challenge in a Case with Accompanying Neurologic Symptoms.

Authors:  Sevinc Atik; Feray Koc; Yusuf Cem Kaplan; Süreyya Gül Yurtseven
Journal:  Neuroophthalmology       Date:  2014-04-25

2.  De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.

Authors:  Dianna M Milewicz; John R Østergaard; Leena M Ala-Kokko; Nadia Khan; Dorothy K Grange; Roberto Mendoza-Londono; Timothy J Bradley; Ann Haskins Olney; Lesley Adès; Joseph F Maher; Dongchuan Guo; L Maximilian Buja; Dong Kim; James C Hyland; Ellen S Regalado
Journal:  Am J Med Genet A       Date:  2010-10       Impact factor: 2.802

3.  Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome.

Authors:  Hans Ulrik Moller; Hans C Fledelius; Dianna M Milewicz; Ellen S Regalado; John R Ostergaard
Journal:  Br J Ophthalmol       Date:  2012-07-11       Impact factor: 4.638

4.  Isolated bilateral congenital iris sphincter agenesis.

Authors:  Aparna Rao
Journal:  Case Rep Ophthalmol Med       Date:  2011-12-14

5.  High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.

Authors:  Aisling B Mc Glacken-Byrne; David Prentice; Danial Roshandel; Michael R Brown; Philip Tuch; Kyle S-Y Yau; Padma Sivadorai; Mark R Davis; Nigel G Laing; Fred K Chen
Journal:  BMC Ophthalmol       Date:  2020-02-24       Impact factor: 2.209
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.