A milder variant of Pierson syndrome

[1]  P. Yurchenco,et al.  Role of Laminin Terminal Globular Domains in Basement Membrane Assembly* , 2007, Journal of Biological Chemistry.

[2]  T. Aigner,et al.  Neurodevelopmental deficits in Pierson (microcoria‐congenital nephrosis) syndrome , 2007, American journal of medical genetics. Part A.

[3]  M. Zenker,et al.  A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2. , 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[4]  Bethan E. Hoskins,et al.  Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. , 2006, Kidney international.

[5]  D. Witte,et al.  Pierson Syndrome: A Novel Cause of Congenital Nephrotic Syndrome , 2006, Pediatrics.

[6]  T. Aigner,et al.  Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. , 2004, Human molecular genetics.

[7]  J. Dötsch,et al.  Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: An autosomal recessive syndrome , 2004, American journal of medical genetics. Part A.

[8]  M. Paulsson,et al.  Laminins: Structure and genetic regulation , 2000, Microscopy research and technique.

[9]  J. Sanes,et al.  The renal glomerulus of mice lacking s–laminin/laminin β2: nephrosis despite molecular compensation by laminin β1 , 1995, Nature Genetics.

[10]  A. Cohen,et al.  Kidney in Galloway-Mowat syndrome: clinical spectrum with description of pathology. , 1994, Kidney international.

[11]  R. Habib Nephrotic syndrome in the 1st year of life , 1993, Pediatric Nephrology.

[12]  David L. Rimoin,et al.  Principles and Practice of Medical Genetics , 1990 .

[13]  J. Sanes,et al.  A laminin-like adhesive protein concentrated in the synaptic cleft of the neuromuscular junction , 1989, Nature.

[14]  M. Pierson,et al.  [AN UNUSUAL CONGENITAL AND FAMILIAL CONGENITAL MALFORMATIVE COMBINATION INVOLVING THE EYE AND KIDNEY]. , 1963, Journal de genetique humaine.

[15]  C. Holmberg NEPHROTIC SYNDROME IN THE FIRST YEAR OF LIFE , 2008 .

[16]  M. Zenker,et al.  [LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia]. , 2006, Przeglad lekarski.

[17]  J. Sanes,et al.  The renal glomerulus of mice lacking s-laminin/laminin beta 2: nephrosis despite molecular compensation by laminin beta 1. , 1995, Nature genetics.