The Missing Piece of the Puzzle: Unveiling the Role of <i>PTPN11</i> Gene in Multiple Osteochondromas in a Large Cohort Study

<div>SNVs and CNVs in <i>PTPN11</i> gene associated with MC or MO. (a) Detected variants in our cohort and all record with MC from HGMD v.2022.1 database. SH2: Src homology 2. (b) Clinical summary of all probands with SNV in the <i>PTPN11</i> gene from our cohort. Inh.: inheritance; all cases that are not de novo: a variant inherited from a parent with signs of the disease; NA: not available for families that we could not receive parent blood sample for segregation analysis.</div>

Human Mutation

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Figure 3

Figure 3: The Missing Piece of the Puzzle: Unveiling the Role of <i>PTPN11</i> Gene in Multiple Osteochondromas in a Large Cohort Study 

Human Mutation

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study

Figure 3