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Pierson syndrome

*Gene map locus 3p21
Microcoria-congenital nephrosis syndrome
[Clinical features: congenital nephrotic syndrome; ocular abnormalities, including microcoria (small pupils); muscular and neurological developmental defects]
[Inheritance: autosomal recessive]

Human laminin {beta}2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities
Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome
Pierson Syndrome: A Novel Cause of Congenital Nephrotic Syndrome
Human Molecular Genetics
Journal of Medical Genetics
Pediatrics

Pierson Syndrome: A Novel Cause of Congenital Nephrotic Syndrome
Pierson Syndrome: A Novel Cause of Congenital Nephrotic Syndrome
Pierson Syndrome: A Novel Cause of Congenital Nephrotic Syndrome
Pediatrics
Pediatrics
Pediatrics

   
Pierson Syndrome: A Novel Cause of Congenital Nephrotic Syndrome
   
Pediatrics
   


 

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Edited by Aldo Campana, February 8, 2010