Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome).

@article{CormierDaire2001AllelicAN,
  title={Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome).},
  author={Val{\'e}rie Cormier-Daire and C{\'e}line Huber and Arnold Munnich},
  journal={American journal of medical genetics},
  year={2001},
  volume={106 4},
  pages={272-4}
}
Dyschondrosteosis (DCS) is an autosomal dominant form of mesomelic dysplasia that has been recently ascribed to large-scale deletions and nonsense mutations of the SHOX gene on the pseudoautosomal region of chromosome X and Y [Belin et al., 1998: Nat Genet 19:67-69; Shears et al., 1998: Nat Genet 19:70-73]. Here, we report the molecular analysis of a total of 23 DCS families including 16 previously reported pedigrees [Belin et al., 1998: Nat Genet 19:67-69; Huber et al., 2001: J Med Genet 38… CONTINUE READING

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