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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 2019  |  Volume : 30  |  Issue : 4  |  Page : 969-973
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

Department of Nephrology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India

Correspondence Address:
Sudhir Mehta
Department of Nephrology, Dayanan Medical College and Hospital, Ludhiana, Punjab
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DOI: 10.4103/1319-2442.265476

PMID: 31464257

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Metachondromatosis is a rare disorder of autosomal inheritance with incomplete penetrance, which is characterized by formation of osteochondroma and enchondroma, caused by loss of function of the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene. Diagnosis is made based on the distribution and orientation of lesions with history of regression of lesions with time and confirmed by genetic mutation of PTPN11 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.

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