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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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