E-mail ID : info@iamg.in |
Online Submission |
Click Here For Online Submission |
Instructions for authors |
Genetic Clinics |
Editorial board |
Get Our Newsletter |
Subscribe |
Send Your Feedback |
Feedback Form |
About Us |
IAMG |
Abstract
July-September 2017 | Vol. 10 | Issue 3 | Page No 5-9 | |||
MECP2 Gene-Related Disorders | |||
Meenakshi Lallar and Shubha R Phadke | |||
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow | |||
Address for Correspondence Email: shubharaophadke@gmail.com | |||
Abstract Classic Rett syndrome is a neurodevelopmental disease in females caused by mutations in the MECP2 gene. With recent advancements in molecular techniques, point mutations and small and large deletions/duplications have been identified in the MECP2 gene associated with varying disease phenotypes in both males and females. This review on MECP2 gene-related disorders discusses the various disease phenotypes associated with MECP2 gene mutations. | |||
HTML Full Text | Download PDF |