Corpus ID: 215238223

JCB_201605119 2911..2926

  title={JCB_201605119 2911..2926},
  author={Gariepy and Bonaf{\'e} and Filmus},
  • 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

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