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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
[Prematurity with cerebral palsy and ceroid lipofuscinosis].
Peña-Segura JL, Argüelles PP, Hidalgo ML, Sánchez VG, Delgado RP, Galindo LM, Jiménez MC, Moisés VR, Pisón JL. Peña-Segura JL, et al. Among authors: delgado rp. An Pediatr (Barc). 2010 Nov;73(5):291-3. doi: 10.1016/j.anpedi.2010.07.013. An Pediatr (Barc). 2010. PMID: 20817581 Free article. Spanish. No abstract available.
[Pediatric cerebrovascular accident secondary to fibromuscular dysplasia].
Escalona AO, Pradel ZG, Pisón JL, Oguiza AG, Montañés NC, Delgado RP, Hidalgo ML, Guelbenzu S, Segura JL. Escalona AO, et al. Among authors: delgado rp. An Pediatr (Barc). 2009 Oct;71(4):339-42. doi: 10.1016/j.anpedi.2009.06.021. Epub 2009 Sep 16. An Pediatr (Barc). 2009. PMID: 19762296 Free article. Spanish.