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06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Wiedemann-Rautenstauch syndrome
J P Narayan1, P Garg, G Pareek
1Department of Pediatrics, JLN Medical College, Ajmer, Rajasthan, India. Narayan_jaiprakash@yahoo.co.in
Indian Pediatrics
|October 14, 2011
Abstract:
Wiedemann Rautenstauch (WR) syndrome is a rare autosomal recessive neonatal progeroid syndrome with only few published case reports. We describe a neonate showing clinical features of WR syndrome with peeling of skin, and presented with weak cry and breathing difficulty since birth.
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