Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

This publication has 14 references indexed in Scilit:

• Demonstration of two novelLAMB2 mutations in the original Pierson syndrome family reported 42 years ago
  American Journal of Medical Genetics Part A, 2005
• Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities
  Human Molecular Genetics, 2004
• Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: An autosomal recessive syndrome
  American Journal of Medical Genetics Part A, 2004
• Molecular basis of the functionalpodocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains
  Human Molecular Genetics, 2003
• Laminin Polymerization Induces a Receptor–Cytoskeleton Network
  The Journal of cell biology, 1999
• Identification of Constitutional WT1 Mutations, in Patients with Isolated Diffuse Mesangial Sclerosis, and Analysis of Genotype/Phenotype Correlations by Use of a Computerized Mutation Database
  American Journal of Human Genetics, 1998
• Positionally Cloned Gene for a Novel Glomerular Protein—Nephrin—Is Mutated in Congenital Nephrotic Syndrome
  Published by Elsevier ,1998
• The renal glomerulus of mice lacking s–laminin/laminin β2: nephrosis despite molecular compensation by laminin β1
  Nature Genetics, 1995
• Familial infantile nephrotic syndrome with ocular abnormalities
  Pediatric Nephrology, 1990
• SHORT VERSUS STANDARD PREDNISONE THERAPY FOR INITIAL TREATMENT OF IDIOPATHIC NEPHROTIC SYNDROME IN CHILDREN
  The Lancet, 1988