Liu J, Wang P, Huang J, Yu Z. Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication. Gene. 2018 Jan 30;641():74–7. doi: 10.1016/j.gene.2017.10.050. PMID: 29054766.
Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication