Publication: 4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation
4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation
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Niedrist, D., Lurie, I. W., & Schinzel, A. (2009). 4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation. European Journal of Human Genetics, 17, 1086–1091. https://doi.org/10.1038/ejhg.2009.11
Abstract
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Abstract
On the basis of the Human Cytogenetic Database, a computerized catalog of the clinical phenotypes associated with cytogenetically detectable human chromosome aberrations, we collected from the literature 102 cases with chromosomal aberrations and split hand/foot malformation or absent fingers/toes. Statistical analysis revealed a highly significant association (P<0.001) between the malformation and the chromosomal bands 4q32-q35, 5q15, 6q16-q22 and 7q11.2-q22 (SHFM1). Considering these findings, we suggest additional SHFM loci on chro
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- Lurie, I W
- Schinzel, A
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Niedrist, D., Lurie, I. W., & Schinzel, A. (2009). 4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation. European Journal of Human Genetics, 17, 1086–1091. https://doi.org/10.1038/ejhg.2009.11
