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MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype.
Corona-Rivera JR, Zenteno JC, Ordoñez-Labastida V, Cruz-Cruz JP, Cortés-Pastrana RC, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A, Martínez-Herrera A. Corona-Rivera JR, et al. Among authors: zenteno jc. Eur J Med Genet. 2023 Oct;66(10):104826. doi: 10.1016/j.ejmg.2023.104826. Epub 2023 Aug 30. Eur J Med Genet. 2023. PMID: 37657631
Aplasia cutis congenita of the scalp in a female infant with anophthalmia/microphthalmia-esophageal atresia syndrome negative for SOX2 mutation.
Corona-Rivera JR, Zenteno JC, Pelcastre-Luna E, Miguel-Jiménez K, Aguirre-Guillén RL, Cabral-Macías J, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A. Corona-Rivera JR, et al. Among authors: zenteno jc. Am J Med Genet A. 2013 May;161A(5):1189-93. doi: 10.1002/ajmg.a.35854. Epub 2013 Mar 5. Am J Med Genet A. 2013. PMID: 23463581 No abstract available.
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.
Acosta-Fernández E, Zenteno JC, Chacón-Camacho OF, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A, Romo-Huerta CO, Zepeda-Romero LC, López-Marure E, Acosta-León J, García-Cruz D, Maciel-Cruz EJ, Corona-Rivera JR. Acosta-Fernández E, et al. Among authors: zenteno jc. Am J Med Genet A. 2020 May;182(5):1223-1229. doi: 10.1002/ajmg.a.61506. Epub 2020 Feb 5. Am J Med Genet A. 2020. PMID: 32022998
First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations.
Corona-Rivera JR, Zenteno JC, López-Pérez LG, Yokoyama-Rebollar E, Villarroel CE, Barragán-Arévalo T, Montes-Almanza LÁ, Zepeda-Romero LC, Morales-Domínguez GE, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A. Corona-Rivera JR, et al. Among authors: zenteno jc. Mol Syndromol. 2023 Apr;14(2):143-151. doi: 10.1159/000526975. Epub 2022 Dec 16. Mol Syndromol. 2023. PMID: 37064331 Free PMC article.
201 results