A rare association of pathological variant of Alport's syndrome caused by hemizygous 5' splice mutation in intron 10 of COL4A5 gene with metachondromatosis due to heterozygous missense variation in protein tyrosine phosphatase nonreceptor type 11 gene.

We report a rare case of a 24-year-old male with Alport's syndrome with metachondromatosis due to missense variation in PTPN11 gene. PMID: 31464257 [PubMed - in process]

https://www.ncbi.nlm.nih.gov/pubmed/31464257?dopt=Abstract

Source: Saudi Journal of Kidney Diseases and Transplantation - June 30, 2019 Category: Urology & Nephrology Authors: Sethi S, Mehta S, Makkar V, Kaur S, Sohal PM Tags: Saudi J Kidney Dis Transpl Source Type: research