Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Pierson syndrome

A rare syndrome characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.

Steroid-resistant nephrotic syndrome

A form of nephrotic syndrome that does not respond to treatment with steroid medication.

Total: 1

(per page)

PMID (PMCID)
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.
	LAMB2 mutations were confirmed in all the three cases, two presented with Pierson syndrome, while one presented with isolated infantile steroid-resistant nephrotic syndrome.