Total: 11 |
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PMID (PMCID) | ||
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29051055 |
FEMALE | |
Skeletal impairment in Pierson syndrome: Is there a role for lamininbeta2 in bone physiology? | ||
Beaufils C, Farlay D, Machuca-Gayet I, Fassier A, Zenker M, Freychet C, Bonnelye E, Bertholet-Thomas A, Ranchin B, Bacchetta J. Bone. 2018;106:187-193. |
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This patient initially displayed CNS and microcoria, leading to the clinical diagnosis of Pierson syndrome. | ||
28188379 (5352804) |
FEMALE | Child |
A novel mutation of laminin beta2 (LAMB2) in two siblings with renal failure. | ||
Falix FA, Bennebroek CA, van der Zwaag B, Lapid-Gortzak R, Florquin S, Oosterveld MJ. Eur J Pediatr. 2017;176(4):515-519. |
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What is known 8226 LAMB2 mutations are associated with Pierson syndrome 8226 Pierson syndrome is associated with congenital nephrotic syndrome, microcoria and neurological deficits What is new 8226 A novel mutation in the LAMB2 gene in two female siblings 8226 Genotype and clinical phenotype description of a novel LAMB2 mutation. | ||
28188379 (5352804) |
FEMALE | Child |
A novel mutation of laminin beta2 (LAMB2) in two siblings with renal failure. | ||
Falix FA, Bennebroek CA, van der Zwaag B, Lapid-Gortzak R, Florquin S, Oosterveld MJ. Eur J Pediatr. 2017;176(4):515-519. |
||
What is known 8226 LAMB2 mutations are associated with Pierson syndrome 8226 Pierson syndrome is associated with congenital nephrotic syndrome, microcoria and neurological deficits What is new 8226 A novel mutation in the LAMB2 gene in two female siblings 8226 Genotype and clinical phenotype description of a novel LAMB2 mutation. | ||
28188379 (5352804) |
FEMALE | Child |
A novel mutation of laminin beta2 (LAMB2) in two siblings with renal failure. | ||
Falix FA, Bennebroek CA, van der Zwaag B, Lapid-Gortzak R, Florquin S, Oosterveld MJ. Eur J Pediatr. 2017;176(4):515-519. |
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The reported phenotype is considered a relatively mild variant of Pierson syndrome and is associated with later-onset (18months) therapy-resistant nephrotic syndrome leading to renal failure, and ocular abnormalities consisting of high myopia, microcoria, diverse retinal abnormalities, hence a low level of visual acuity. | ||
27925579 |
FEMALE | Infant |
LAMB2 mutation with different phenotypes in China . | ||
Zhang H, Cui J, Wang F, Xiao H, Ding J, Yao Y. Clin Nephrol. 2017;87 (2017)(1):33-38. |
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Mutations of the LAMB2 gene mainly cause Pierson syndrome (OMIM) #609049), characterized by congenital nephrotic syndrome (CNS) and complex ocular involvements with microcoria as the most prominent clinical feature. | ||
27004562 (4802576) |
FEMALE | Infant |
Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report. | ||
Qiu L, Zhou J. BMC Pediatr. 2016;16:44. |
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LAMB2 mutations cause Pierson syndrome (OMIM 609049), an autosomal recessive genetic disease typically characterized by congenital nephrotic syndrome (CNS) and early onset renal failure, as well as bilateral microcoria. | ||
24032283 |
FEMALE | Infant, Newborn |
A novel mutation of laminin beta-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period. | ||
Aydin B, Ipek MS, Ozaltin F, Zenciroglu A, Dilli D, Beken S, Okumus N, Hosagasi N, Saygili-Karagol B, Kundak A, Renda R, Aydog O. Genet Couns. 2013;24(2):141-7. |
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Pierson syndrome is a rare autosomal recessive disorder which is mainly characterized by congenital nephrotic syndrome (CNS), diffuse mesangial sclerosis (DMS) and distinct ocular abnormalities, including microcoria. | ||
23679161 |
FEMALE | Infant, Newborn |
First Japanese case of Pierson syndrome with mutations in LAMB2. | ||
Togawa H, Nakanishi K, Mukaiyama H, Hama T, Shima Y, Nakano M, Fujita N, Iijima K, Yoshikawa N. Pediatr Int. 2013;55(2):229-31. |
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Pierson syndrome (OMIM 609049) is typically characterized by congenital nephritic syndrome and peculiar ocular anomalies with microcoria. | ||
22228401 |
FEMALE | |
Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR. | ||
Lehnhardt A, Lama A, Amann K, Matejas V, Zenker M, Kemper MJ. Pediatr Nephrol. 2012;27(5):865-8. |
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Pierson syndrome, caused by mutations in the LAMB2 gene, was originally described as a combination of microcoria and congenital nephrotic syndrome, rapidly progressing to end-stage renal failure. | ||
17943323 |
MALE | Infant |
A milder variant of Pierson syndrome. | ||
Kagan M, Cohen AH, Matejas V, Vlangos C, Zenker M. Pediatr Nephrol. 2008;23(2):323-7. |
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Recently, mutations in the LAMB2 gene encoding laminin beta2 were described as the cause of Pierson syndrome, which is characterized by CNS and a complex ocular maldevelopment with microcoria as the most prominent clinical features. | ||
18278520 |
FEMALE | Infant, Newborn |
Variable phenotype of Pierson syndrome. | ||
Choi HJ, Lee BH, Kang JH, Jeong HJ, Moon KC, Ha IS, Yu YS, Matejas V, Zenker M, Choi Y, Cheong HI. Pediatr Nephrol. 2008;23(6):995-1000. |
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Pierson syndrome is caused by mutations in the LAMB2 gene, which encodes the laminin beta2 chain, and is clinically characterized by congenital nephrotic syndrome (CNS) and bilateral microcoria. |