Identification of a non-stop mutation in PAX6 causing a unique presentation of aniridia in an iranian family trial

Autor: Mehran Zarei-Ghanavati, Ghaffari, R., Abedkhojasteh, H., Raoufian, K., Raoofian, R., Mohebbi, M., Heidari, M.

Publikováno v: Scopus-Elsevier
Acta Medica Iranica, Vol 56, Iss 2 (2018)

Non-syndromic aniridia (iris hypoplasia) as an autosomal dominant eye disorder results from the chromosomal abnormalities and mutations within the paired box gene 6 (PAX6). The aim of this study was to investigate on the clinical and the underlying g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::df6fe35ebc64e8ff5505791160cdc54a
http://www.scopus.com/inward/record.url?eid=2-s2.0-85042164629&partnerID=MN8TOARS

Concomitant splenic and hepatic hydatidosis: report of two cases and review of the literature.

Autor: Jabbari Nooghabi A; Surgical Oncology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran. jabari_azadeh2000@yahoo.com., Raoufian K; Surgical Oncology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran. Raoufiank1@mums.ac.ir., Motie MR; Surgical Oncology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran. motiem@mums.ac.ir.

Publikováno v: Acta medica Iranica [Acta Med Iran] 2015; Vol. 53 (1), pp. 74-7.