合計: 3 |
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PMID (PMCID) | ||
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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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The phenotypes caused by LAMB2 mutation were variable, mainly Pierson syndrome, as well as isolated nephrotic syndrome without ocular involvement. | ||
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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A novel mutation of laminin 946-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period. |