Hunter’S Syndrome and Pebbling of Skin: A Case Report with a Rare Genetic Mutation
Author:
Affiliation:
1. From the Department of Dermatology, Venereology and Leprosy, Sri Manakula Vinayagar Medical College and Hospital, Pondicherry, India
2. Department of Biochemistry, AIIMS, Madurai, Tamil Nadu, India E-mail: vijayasankarpalaniappan@gmail.com
Publisher
Medknow
Reference8 articles.
1. Mucopolysaccharidosis type II (Hunter syndrome):A clinical review and recommendations for treatment in the era of enzyme replacement therapy;Wraith;Eur J Pediatr,2008
2. Pebbling of the skin:A marker of Hunter's syndrome;Thappa;Pediatr Dermatol,1998
3. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome);Martin;Pediatrics,2008
4. Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II:New mutations in the iduronate-2-sulfatase (IDS) gene;Filocamo;Hum Mutat,2001
5. Mucopolysaccharidosis type II:Identification of 30 novel mutations among Latin American patients;Brusius-Facchin;Mol Genet Metab,2014
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