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Abstract

July to September 2019 | Vol. 12 | Issue 3 | 02-05
Aicardi-Goutieres Syndrome - Expanding the Phenotypic Spectrum
Ami Shah1, Snehal Mallakmir1, Mitusha Verma2, Rashid Merchant1
1Genetic Clinic, Department of Pediatrics, Nanavati Super Specialty Hospital, Mumbai, Maharashtra, India 2Department of Radiology, Nanavati Super Specialty Hospital, Mumbai, Maharashtra, India
Address for Correspondence Email: drami.rajesh.shah@gmail.com
 
Abstract
Aicardi-Goutières syndrome (AGS) is a rare inherited autosomal recessive condition. A number of different phenotypic presentations of AGS have been identified in recent years. This report describes an infant with AGS type 1, who presented with a neonatal lupus-like phenotype.
 
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