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Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.
Angius A, Uva P, Oppo M, Buers I, Persico I, Onano S, Cuccuru G, Van Allen MI, Hulait G, Aubertin G, Muntoni F, Fry AE, Annerén G, Stattin EL, Palomares-Bralo M, Santos-Simarro F, Cucca F, Crisponi G, Rutsch F, Crisponi L. Angius A, et al. Clin Genet. 2019 May;95(5):607-614. doi: 10.1111/cge.13532. Epub 2019 Mar 28. Clin Genet. 2019. PMID: 30859550
Novel X-linked mental retardation syndrome with short stature maps to Xq24.
Vitale E, Specchia C, Devoto M, Angius A, Rong S, Rocchi M, Schwalb M, Demelas L, Paglietti D, Manca S, Mastropaolo C, Serra G. Vitale E, et al. Among authors: angius a. Am J Med Genet. 2001 Sep 15;103(1):1-8. doi: 10.1002/ajmg.1495. Am J Med Genet. 2001. PMID: 11562927
142 results