CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

@article{Vogt2012CHRNGGC,
  title={CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.},
  author={Julie Vogt and Neil V Morgan and Pauline K. Rehal and Laurence Faivre and Louise A. Brueton and Kristin Becker and J E Fryns and Sue E. Holder and Lily Islam and Emma Kivuva and Sally Ann Lynch and Renaud Laurian Touraine and Louise Elizabeth Wilson and Fiona. Macdonald and Eamonn R Maher},
  journal={Journal of medical genetics},
  year={2012},
  volume={49 1},
  pages={
          21-6
        }
}
BACKGROUND Germline mutations in the CHRNG gene that encodes the γ subunit of the embryonal acetylcholine receptor may cause the non-lethal Escobar variant (EVMPS) or the lethal form (LMPS) of multiple pterygium syndrome (MPS). In addition CHRNG mutations and mutations in other components of the embryonal acetylcholine receptor may present with fetal akinesia deformation sequence (FADS) without pterygia. METHODS In order to elucidate further the role of CHRNG mutations in MPS/FADS, this study… CONTINUE READING
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