Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases.

@article{Morleo2005MicrophthalmiaWL,
  title={Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases.},
  author={Manuela Morleo and Tiziano Pramparo and Lucia Perone and Giuliana Gregato and C{\'e}dric Le Caignec and Robert Franz M{\"u}ller and Tsutomu Ogata and Annick Raas-Rothschild and Marie Christine de Blois and Louise E. Wilson and Gerald W Zaidman and Orsetta Zuffardi and Andrea Ballabio and Brunella Franco},
  journal={American journal of medical genetics. Part A},
  year={2005},
  volume={137 2},
  pages={190-8}
}
The microphthalmia with linear skin defects (MLS) syndrome (MIM 309801) is a severe and rare developmental disorder, which is inherited as an X-linked dominant trait with male lethality. In the vast majority of patients, this syndrome is associated with terminal deletion of the Xp22.3 region. Thirty-five cases have been described to date in the literature since the first description of the syndrome in the early 1990s. We now report on the clinical, cytogenetic, and molecular characterization of… CONTINUE READING
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