Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations

@article{AbdelHamid2017BandlikeCW,
  title={Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations},
  author={Mohamed S. Abdel-Hamid and Ghada M H Abdel-Salam and Mahmoud Y. Issa and Bayoumi A. Emam and M S Zaki},
  journal={Journal of Human Genetics},
  year={2017},
  volume={62},
  pages={553-559}
}
Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is an extremely rare autosomal recessive disorder with distinctive clinical and neuroimaging findings. To date, only 17 patients from 9 unrelated families with BLC-PMG have been reported worldwide. Herein, we describe a series of 13 new patients derived from 10 unrelated Egyptian families. Patients presented at early life with the classic phenotype including severe microcephaly, failure to acquire developmental skills… CONTINUE READING
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