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Table 1 Microdeletions of various sizes encompassing the exonic enhancers of DLX5/6 located in exon 15 and 17 of DYNC1I1 are associated with SHFM1

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

Family Genomic Location (hg19) Size of Deletion [kb] Phenotype
1 chr7:95,615,187-95,783,313 167 SHFM
2 chr7:95,624,825-96,135,521 510 SHFM, Hearing loss
3 chr7: 95,667,046-95,872,044 205 SHFM
4 chr7:95,693,341-95,862,369 169 SHFM
  1. SHFM: Split hand foot malformation.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172