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

BACKGROUND: 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. METHODS: We identified thre...

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Pubblicato in:BMC Med Genet
Autori principali: Shah, Khadim, Ali, Raja Hussain, Ansar, Muhammad, Lee, Kwanghyuk, Chishti, Muhammad Salman, Abbe, Izoduwa, Li, Biao, Smith, Joshua D., Nickerson, Deborah A., Shendure, Jay, Coucke, Paul J., Steyaert, Wouter, Bamshad, Michael J., Santos-Cortez, Regie Lyn P., Leal, Suzanne M., Ahmad, Wasim
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2016
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4754937/
https://ncbi.nlm.nih.gov/pubmed/26880286
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0275-5
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