Аutosomal Dominant Oculodental-Digital Dysplasia with Mutation in Gene GJA1 (Clinical Case)

Аutosomal Dominant Oculodental-Digital Dysplasia with Mutation in Gene GJA1 (Clinical Case)

The purpose: to describe clinical cases of oculodental-digital dysplasia (ODDD, OMIM #164200) with mutation in GJA1 (OMIM 121014) with molecular genetic verification of the diagnosis.Methods. The article describes the clinical case of oculodental-digital dysplasia in a 51 years old patient. Patient...

Full description

Bibliographic Details
Main Authors: I. V. Zolnikova, V. V. Kadyshev, A. V. Marakhonov, S. I. Kutsev, R. A. Zinchenko
Format: Article
Language:Russian
Published: Ophthalmology Publishing Group 2021-04-01
Series:Oftalʹmologiâ
Subjects:
oculodental-digital dysplasia
gja1
dna-diagnosis
electroretinogram
visual evoked potentials
oct
Online Access:https://www.ophthalmojournal.com/opht/article/view/1450

Internet

https://www.ophthalmojournal.com/opht/article/view/1450

Similar Items