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pierson syndrome (34) 34
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Journal Article
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, ISSN 1046-6673, 03/2018, Volume 29, Issue 3, pp. 949 - 960
Pierson syndrome is a congenital nephrotic syndrome with eye and neurologic defects caused by mutations in laminin beta 2 (LAMB2), a major component of the... 
KIDNEY-DISEASE | GLOMERULAR-BASEMENT-MEMBRANE | COLLAGEN-IV | PIERSON-SYNDROME | MOUSE MODEL | MUSCULAR-DYSTROPHY | UROLOGY & NEPHROLOGY | EXTRACELLULAR-MATRIX | NEPHROTIC SYNDROME | LINKER MOLECULES | FOCAL SEGMENTAL GLOMERULOSCLEROSIS
Journal Article
PLOS ONE, ISSN 1932-6203, 10/2017, Volume 12, Issue 10
Mutations in the NPHS2 gene, encoding podocin, cause hereditary nephrotic syndrome. The most common podocin mutation, R138Q, is associated with early disease... 
SEGMENTAL GLOMERULOSCLEROSIS | PIERSON-SYNDROME | MULTIDISCIPLINARY SCIENCES | MUTANT PODOCIN | ELECTRON-MICROSCOPY | NPHS2 MUTATIONS | DIABETIC-NEPHROPATHY | ALPORT-SYNDROME | SEVERE RENAL-DISEASE | UP-REGULATION | LAMININ BETA-2
Journal Article
Journal Article
BONE, ISSN 8756-3282, 01/2018, Volume 106, pp. 187 - 193
Introduction: Pierson syndrome is caused by a mutation of LAMB2, encoding for laminin beta 2. Clinical phenotype is variable but usually associates congenital... 
Pierson syndrome | CELLS | CONGENITAL NEPHROSIS | INTEGRIN EXPRESSION | BETA-2 | Skeletal impairment | OCULAR ABNORMALITIES | Laminin beta 2 | DISEASE | ENDOCRINOLOGY & METABOLISM | MESANGIAL SCLEROSIS | EXTRACELLULAR-MATRIX | MICE | Bone | MUTATIONS
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 09/2010, Volume 31, Issue 9, pp. 992 - 1002
Mutations of LAMB2 typically cause autosomal recessive Pierson syndrome, a disorder characterized by congenital nephrotic syndrome, ocular and neurologic... 
Pierson syndrome | READTHROUGH | LAMB2 | nephrotic syndrome | DISTINCT EYE ABNORMALITIES | CONGENITAL NEPHROSIS SYNDROME | MESSENGER-RNA | PIERSON-SYNDROME | MICROCORIA | podocyte | GENETICS & HEREDITY | MESANGIAL SCLEROSIS | laminin | MICE | ocular malformation | autosomal recessive
Journal Article
FRONTIERS IN MEDICINE, ISSN 2296-858X, 02/2019, Volume 6, p. 12
Objective: Pierson syndrome (OMIM 609049) is a rare autosomal recessive disorder characterized by congenital nephrotic syndrome and complex ocular... 
MEDICINE, GENERAL & INTERNAL | homozygous mutation | pierson syndrome | LAMB2 gene | severe type | microcoria | SPECTRUM | NEPHROTIC SYNDROME | Laminin | Genetic disorders | Gene mutations | Uighurs | Genetic aspects | Research | Health aspects | Risk factors
Journal Article
European journal of pediatrics, ISSN 0340-6199, 2017, Volume 176, Issue 4, pp. 515 - 519
This report describes a novel mutation of LAMB2, the gene associated with Pierson syndrome (microcoria-congenital nephrosis syndrome), in two female siblings.... 
Pierson syndrome | Ocular abnormalities | GENE | LAMB2 | PIERSON-SYNDROME | PEDIATRICS | Nephrotic syndrome | SPECTRUM
Journal Article
Development, ISSN 0950-1991, 03/2006, Volume 133, Issue 5, pp. 967 - 975
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 02/2007, Volume 143, Issue 4, pp. 311 - 319
Journal Article
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