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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

Figure 4

Deletions of eExons of DYNC1I1 account for approximately 3% of SHFM/SHFLD cases: In our cohort of SHFM/SHFLD cases, 17p13.3 duplications were identified in 13% (18/134) of the families, 10q24 duplications in 12% (16/134), TP63 mutations were detected in 4% (6/134), and deletions of the eExons of DYNC1I1 in 3% (3/134). WNT10B mutation analysis was negative in all seven consanguineous families investigated. In the majority of families with SHFM and SHFLD (68%) no molecular diagnosis could be made.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172