Wolf-Hirschhorn syndrome: A review and update.

@article{Battaglia2015WolfHirschhornSA,
  title={Wolf-Hirschhorn syndrome: A review and update.},
  author={Agatino Battaglia and John C Carey and Sarah T. South},
  journal={American journal of medical genetics. Part C, Seminars in medical genetics},
  year={2015},
  volume={169 3},
  pages={216-23}
}
Since 4p- was first described in 1961, significant progress has been made in our understanding of this classic deletion disorder. We have been able to establish a more complete picture of the WHS phenotype associated with distal 4p monosomy, and we are working to delineate the phenotypic effects when each gene on distal 4p is hemizygous. Our aim is to provide genotype-specific anticipatory guidance and recommendations to families of individuals with a diagnosis of WHS. In addition, establishing… CONTINUE READING
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