Literature DB >> 1605422

["Cat eye syndrome" with right renal agenesis. Report of a case and review of the literature].

J R Legros y Carrenard1, F Martínez Cortés, J Martín Sánchez.   

Abstract

Entities:  

Mesh：

Year:  1992        PMID： 1605422

Source DB:  PubMed          Journal:  An Esp Pediatr        ISSN： 0302-4342


× No keyword cloud information.
  3 in total

1.  Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.

Authors:  K Narahara; E Baker; S Ito; Y Yokoyama; S Yu; D Hewitt; G R Sutherland; M R Eccles; R I Richards
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

2.  Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

Authors:  L A Schimmenti; H E Cunliffe; L A McNoe; T A Ward; M C French; H H Shim; Y H Zhang; W Proesmans; A Leys; K A Byerly; S R Braddock; M Masuno; K Imaizumi; K Devriendt; M R Eccles
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

3.  The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.

Authors:  H E Cunliffe; L A McNoe; T A Ward; K Devriendt; H G Brunner; M R Eccles
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.