Split-hand/foot malformation - molecular cause and implications in genetic counseling

@inproceedings{SowiskaSeidler2013SplithandfootM,
  title={Split-hand/foot malformation - molecular cause and implications in genetic counseling},
  author={Anna Sowińska-Seidler and Magdalena Socha and Aleksander Jamsheer},
  booktitle={Journal of Applied Genetics},
  year={2013}
}
Split-hand/foot malformation (SHFM) is a congenital limb defect affecting predominantly the central rays of the autopod and occurs either as an isolated trait or part of a multiple congenital anomaly syndrome. SHFM is usually sporadic, familial forms are uncommon. The condition is clinically and genetically heterogeneous and shows mostly autosomal dominant inheritance with variable expressivity and reduced penetrance. To date, seven chromosomal loci associated with isolated SHFM have been… CONTINUE READING

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