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Saudi Journal of Kidney Diseases and Transplantation
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Year : 2019 | Volume:  30 | Issue Number:  4

CASE REPORT

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

Sethi Suman, Mehta Sudhir, Makkar Vikas, Kaur Simran, Sohal P M

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