Corpus ID: 215238223

JCB_201605119 2911..2926

@inproceedings{Gariepy2017JCB_2016051192,
  title={JCB_201605119 2911..2926},
  author={Gariepy and Bonaf{\'e} and Filmus},
  year={2017}
}
  • Gariepy, Bonafé, Filmus
  • Published 2017
  • Autosomal-recessive omodysplasia (OMOD1) is a skeletal dysplasia characterized by short stature, severely shortened limbs, and craniofacial dysmorphisms (Borochowitz et al., 1998; Elçioglu et al., 2004). Other variable abnormalities include cryptorchidism, hernias, congenital heart defects, and cognitive delay (Borochowitz et al., 1998; Elçioglu et al., 2004). OMOD1 was first described in 1989, and its incidence is still unknown. This genetic condition is caused by loss-of-function mutations of… CONTINUE READING

    Figures from this paper

    References

    SHOWING 1-10 OF 54 REFERENCES
    Hedgehog signalling. Development. 143:367–372
    • 2016
    The role of glypicans in Hedgehog signaling.
    • J. Filmus, M. Capurro
    • Biology, Medicine
    • Matrix biology : journal of the International Society for Matrix Biology
    • 2014
    • 87
    Heparan sulfate proteoglycans containing a glypican 5 core and 2-O-sulfo-iduronic acid function as Sonic Hedgehog coreceptors to promote proliferation
    • J. Biol. Chem. 288:26275–26288. http
    • 2013
    The mechanisms of Hedgehog signalling and its roles in development and disease
    • 1,032
    Hedgehog Secretion and Signal Transduction in Vertebrates
    • 96
    • PDF