Pollitt syndrome patients carry mutation in TTDN1

Complete human genome sequencing was used to identify the causative mutation in a family with Pollitt syndrome (MIM #275550), comprising two non-consanguineous parents and their two affected children. The patient's symptoms were reminiscent of the non-photosensitive form of recessively inherite...

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Pubblicato in:Meta Gene
Autori principali: Swagemakers, Sigrid M.A., Jaspers, Nicolaas G.J., Raams, Anja, Heijsman, Daphne, Vermeulen, Wim, Troelstra, Christine, Kremer, Andreas, Lincoln, Stephen E., Tearle, Rick, Hoeijmakers, Jan H.J., van der Spek, Peter J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2014
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4287846/
https://ncbi.nlm.nih.gov/pubmed/25606444
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mgene.2014.08.001
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