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Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
Rodríguez-García ME, Cotrina-Vinagre FJ, Olson AN, Sánchez-Calvin MT, de Aragón AM, de Las Heras RS, Dinman JD, de Vries BBA, Nabais Sá MJ, Quijada-Fraile P, Martínez-Azorín F. Rodríguez-García ME, et al. Among authors: cotrina vinagre fj. J Hum Genet. 2023 Aug;68(8):577. doi: 10.1038/s10038-023-01164-y. J Hum Genet. 2023. PMID: 37237142 No abstract available.
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
Rodríguez-García ME, Cotrina-Vinagre FJ, Olson AN, Sánchez-Calvin MT, de Aragón AM, de Las Heras RS, Dinman JD, de Vries BBA, Nabais Sá MJ, Quijada-Fraile P, Martínez-Azorín F. Rodríguez-García ME, et al. Among authors: cotrina vinagre fj. J Hum Genet. 2023 Aug;68(8):543-550. doi: 10.1038/s10038-023-01150-4. Epub 2023 Apr 18. J Hum Genet. 2023. PMID: 37072624
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome.
Rodríguez-García ME, Cotrina-Vinagre FJ, Bellusci M, Martínez de Aragón A, Hernández-Sánchez L, Carnicero-Rodríguez P, Martín-Hernández E, Martínez-Azorín F. Rodríguez-García ME, et al. Eur J Hum Genet. 2019 Sep;27(9):1369-1378. doi: 10.1038/s41431-019-0418-1. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053780 Free PMC article.
14 results