Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP

@article{Shah2016MitralRA,
  title={Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP},
  author={Khadim Shah and Raja Hussain Ali and Muhammad Zaka Ansar and Kwanghyuk Lee and Muhammad Salman Chishti and Izoduwa Abbe and Biao Li and Joshua D. Smith and Deborah A. Nickerson and Jay Shendure and Paul J Coucke and Wouter Steyaert and Michael J Bamshad and Regie P. Lyn Santos-Cortez and Suzanne M. Leal and Wasim Ahmad},
  journal={BMC Medical Genetics},
  year={2016},
  volume={17},
  pages={1-9}
}
Nonphotosensitive trichothiodystrophy (TTDN) is a rare autosomal recessive disorder of neuroectodermal origin. The condition is marked by hair abnormalities, intellectual impairment, nail dystrophies and susceptibility to infections but with no UV sensitivity. We identified three consanguineous Pakistani families with varied TTDN features and used homozygosity mapping, linkage analysis, and Sanger and exome sequencing in order to identify pathogenic variants. Haplotype analysis was performed… CONTINUE READING
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