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Juan Carlos Zenteno
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Journal Articles

A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene

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Subject Area:
Genetics
Jorge Román Corona-Rivera, Izabel Maryalexandra Rios-Flores, Juan Carlos Zenteno, Christian Peña-Padilla, Katia Castillo-Reyes, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Elizabeth Acosta-Fernández, Alejandro Bruckman-Jiménez
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (1): 51–57.
https://doi.org/10.1159/000531934
Published Online: 18 August 2023
View article titled, A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene
Open the PDF for A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene in another window
Journal Articles

First Report of Mexican Patients with PACS1 -Related Neurodevelopmental Disorder and Review of the PACS1 -, PACS2 -, and WDR37 -Related Ophthalmological Manifestations

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Subject Area:
Karger e-Journal Backfile Collection 2023 , Endocrinology , Further Areas , Genetics , Women's and Children's Health
Jorge Román Corona-Rivera, Juan Carlos Zenteno, Leopoldo Gildardo López-Pérez, Emiy Yokoyama-Rebollar, Camilo E. Villarroel, Tania Barragán-Arévalo, Luis Ángel Montes-Almanza, Luz Consuelo Zepeda-Romero, Guadalupe Elena Morales-Domínguez, Christian Peña-Padilla, Lucina Bobadilla-Morales, Alfredo Corona-Rivera
Journal: Molecular Syndromology
Mol Syndromol (2023) 14 (2): 143–151.
https://doi.org/10.1159/000526975
Published Online: 20 April 2023
View article titled, First Report of Mexican Patients with PACS1 -Related Neurodevelopmental Disorder and Review of the PACS1 -, PACS2 -, and WDR37 -Related Ophthalmological Manifestations
Open the PDF for First Report of Mexican Patients with PACS1 -Related Neurodevelopmental Disorder and Review of the PACS1 -, PACS2 -, and WDR37 -Related Ophthalmological Manifestations in another window