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

Conclusion:
This study extends the allelic and phenotypic spectra of MPLKIP-related TTDN, to include a splice variant that causes cardiomyopathy as part of the TTDN phenotype.

Source: Epidemiologic Perspectives and Innovations - February 16, 2016 Category: Epidemiology Authors: Khadim ShahRaja AliMuhammad AnsarKwanghyuk LeeMuhammad ChishtiIzoduwa AbbeBiao LiUniversity of Washington Center for Mendelian GenomicsJoshua SmithDeborah NickersonJay ShendurePaul CouckeWouter SteyaertMichael BamshadRegie Santos-CortezSuzanne LealWasim A Source Type: research