A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s40001-016-0215-z
Reference15 articles.
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2. Kagan M, Cohen AH, Matejas V, Vlangos C, Zenker M. A milder variant of Pierson syndrome. Pediatr Nephrol. 2008;23:323–7.
3. Lehnhardt A, Lama A, Amann K, Matejas V, Zenker M, Kemper MJ. Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR. Pediatr Nephrol. 2012;27:865–8.
4. Cochat P, Zenker M. Le syndrome de Pierson, Michel Pierson. Arch Ped. 2011;18:1127–9.
5. Maselli RA, Ng JJ, Anderson JA, Cagney O, Arredondo J, Williams C, Wessel HB, Abdel-Hamid H, Wollmann RL. Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. J Med Genet. 2009;46:203–8.
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