Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice.

@article{Catela2009MultipleCM,
  title={Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice.},
  author={Catarina Catela and Daniel Bilbao-Cort{\'e}s and Esfir Slonimsky and Paschalis Kratsios and Nadia Rosenthal and Pascal te Welscher},
  journal={Disease models & mechanisms},
  year={2009},
  volume={2 5-6},
  pages={283-94}
}
Wolf-Hirschhorn syndrome (WHS) is caused by deletions in the short arm of chromosome 4 (4p) and occurs in about one per 20,000 births. Patients with WHS display a set of highly variable characteristics including craniofacial dysgenesis, mental retardation, speech problems, congenital heart defects, short stature and a variety of skeletal anomalies. Analysis of patients with 4p deletions has identified two WHS critical regions (WHSCRs); however, deletions targeting mouse WHSCRs do not… CONTINUE READING
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