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Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.
Erzurumluoglu AM, Alsaadi MM, Rodriguez S, Alotaibi TS, Guthrie PA, Lewis S, Ginwalla A, Gaunt TR, Alharbi KK, Alsaif FM, Alsaadi BM, Day IN. Erzurumluoglu AM, et al. Among authors: alsaadi bm, alsaadi mm. PLoS One. 2015 Mar 23;10(3):e0121351. doi: 10.1371/journal.pone.0121351. eCollection 2015. PLoS One. 2015. PMID: 25799584 Free PMC article.
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
Shamseldin HE, Al Mogarri I, Alqwaiee MM, Alharbi AS, Baqais K, AlSaadi M, AlAnzi T, Alhashem A, Saghier A, Ameen W, Ibrahim N, Yang J, Abdulwahab F, Hashem M, Chivukula RR, Alkuraya FS. Shamseldin HE, et al. Among authors: alsaadi m. Hum Genet. 2020 Oct;139(10):1273-1283. doi: 10.1007/s00439-020-02170-2. Epub 2020 May 4. Hum Genet. 2020. PMID: 32367404
53 results