Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families.

@article{Traverso2013HypomyelinationAC,
  title={Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families.},
  author={Monica Traverso and Ozge Ozalp Yuregir and Aviva Mimouni-Bloch and Andrea Rossi and Huseyin Aslan and Elisabetta Gazzerro and Sımona Baldassari and Floriana Fruscione and Carlo Minetti and F. Zara and Roberta Biancheri},
  journal={European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society},
  year={2013},
  volume={17 1},
  pages={108-11}
}
BACKGROUND Hypomyelination and congenital cataract (HCC) is a rare autosomal recessive white matter disorder characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in the central and peripheral nervous system, caused by mutations in the FAM126A gene. AIMS To report three patients of two unrelated families… CONTINUE READING