Phenotypic subregions within the split-hand/foot malformation 1 locus

@article{Rasmussen2016PhenotypicSW,
  title={Phenotypic subregions within the split-hand/foot malformation 1 locus},
  author={Malene B. Rasmussen and Sven Kreiborg and P. V. Jensen and Mads Bak and Y. Mang and Marianne Lodahl and Esben Budtz-J\orgensen and Niels Tommerup and Lisbeth Tranebj{\ae}rg and Nanna Dahl Rendtorff},
  journal={Human Genetics},
  year={2016},
  volume={135},
  pages={345-357}
}
Split-hand/foot malformation 1 (SHFM1) is caused by chromosomal aberrations involving the region 7q21.3, DLX5 mutation, and dysregulation of DLX5/DLX6 expression by long-range position effects. SHFM1 can be isolated or syndromic with incomplete penetrance and a highly variable clinical expression, possibly influenced by sex and imprinting. We report on a new family with five affected individuals with syndromic SHFM1 that includes split-hand/foot malformations, hearing loss, and craniofacial… CONTINUE READING
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Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans

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