DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

@article{Sukalo2015DOCK6MA,
  title={DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.},
  author={Maja Sukalo and Felix Tilsen and H{\"u}lya Kayserili and Dietmar M{\"u}ller and Beyhan T{\"u}ys{\"u}z and Deborah M. Ruddy and Emma L. Wakeling and Karen Helene \Orstavik and Katie M G Snape and Richard C Trembath and Maryse De Smedt and Nathalie van der Aa and Martin Skalej and Stefan Mundlos and Wim Wuyts and Laura Southgate and Martin Zenker},
  journal={Human mutation},
  year={2015},
  volume={36 6},
  pages={593-8}
}
Adams-Oliver syndrome (AOS) is characterized by the association of aplasia cutis congenita with terminal transverse limb defects, often accompanied by additional cardiovascular or neurological features. Both autosomal-dominant and autosomal-recessive disease transmission have been observed, with recent gene discoveries indicating extensive genetic heterogeneity. Mutations of the DOCK6 gene were first described in autosomal-recessive cases of AOS and only five DOCK6-related families have been… CONTINUE READING

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