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.

This report challenges against the current belief of genotype-phenotype correlations in PRS. PMID: 29054766 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/29054766?dopt=Abstract

Source: Gene - October 17, 2017 Category: Genetics & Stem Cells Authors: Liu J, Wang P, Huang J, Yu Z Tags: Gene Source Type: research

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