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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