Loss-of-Function Variant in PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome: Expanded Phenotype of Sex Reversal von Contreras-Capetillo, Silvina Noemí, Abreu-González, Melania, Centeno-Navarrete, Yahir, Ferro-Muñoz, Stephany Renatta, Ceballos-Zapata, Julio, García-Martínez, Cesiah

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P150: The rare in the common: Unsuspected Fabry disease von Contreras-Capetillo, Silvina Noemi, Pech-George, Ricardo, Arjona-Villacaña, Ruy, Rangel-Méndez, Jorge, Pinto-Escalante, Doris, Gaviño-Vergara, Alejandro, Cámara-Castillo, Héctor, Contreras-Capetillo, Silvina

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Newborn cystic fibrosis screening in southeastern Mexico: Birth prevalence and novel CFTR gene variants von Ibarra-González, Isabel, Campos-Garcia, Felix-Julián, Herrera-Pérez, Luz del Alba, Martínez-Cruz, Patricia, Moreno-Graciano, Claudia-Margarita, Contreras-Capetillo, Silvina-Noemí, León-Burgos, Verónica, Maldonado-Solis, Felipe-Angel, Alcántara-Ortigoza, Miguel Angel, González del Angel, Ariadna, Vela-Amieva, Marcela

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Focal dermal hypoplasia without focal dermal hypoplasia von Contreras-Capetillo, Silvina N., Lombardi, Maria Paola, Pinto-Escalante, Doris, Hennekam, Raoul C.

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Case Report: Congenital Arthrogryposis and Unilateral Absences of Distal Arm in Congenital Zika Syndrome von Contreras-Capetillo, Silvina Noemi, Palma-Baquedano, Jose Rafael, Valadez-Gonzalez, Nina, Manrique-Saide, Pablo, Barrera-Perez, Hirian Alonso Moshe, Pinto-Escalante, Doris, Pavia-Ruz, Norma

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Zika Virus Infection in Pregnant Women, Yucatan, Mexico von Romer, Yamila, Valadez-Gonzalez, Nina, Contreras-Capetillo, Silvina, Manrique-Saide, Pablo, Vazquez-Prokopec, Gonzalo, Pavia-Ruz, Norma

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Genetic variation of FTO: rs1421085 T>C, rs8057044 G>A, rs9939609 T>A, and copy number (CNV) in Mexican Mayan school‐aged children with obesity/overweight and with normal weight von González‐Herrera, Lizbeth, Zavala‐Castro, Jorge, Ayala‐Cáceres, Claudia, Pérez‐Mendoza, Gerardo, López‐González, María José, Pinto‐Escalante, Doris, Canto‐Cetina, Thelma, García‐Escalante, María Guadalupe, Rubi‐Castellanos, Rodrigo, Contreras‐Capetillo, Silvina, Herrera‐Sanchez, Fernando, Méndez‐Domínguez, Nina, Alcocer‐Gamboa, Alberto

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P461: Potential founder effect in PPT1 in CLN1 disease in Mexican-Mestizo population von Contreras-Capetillo, Silvina, Abreu, Melania, Rubí-Castellanos, Rodrigo, González-Herrera, Lizbeth, Rangel-Méndez, Jorge, Pinto-Escalante, Doris, Ribbón-Conde, Julia, Couoh-Castañeda, Jary

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Birth Defects Associated With Congenital Zika Virus Infection in Mexico von Contreras-Capetillo, Silvina Noemí, Valadéz-González, Nina, Manrique-Saide, Pablo, Carcaño-Castillo, Rafael Eduardo, Pacheco-Tugores, Freddy, Barrera-Pérez, Hirian Alonso Moshe, Pinto-Escalante, Doris, Lliteras-Cardín, Manuel, Hoil-Parra, José Alfredo, Cáceres-Solís, José Luis, Pavía-Ruz, Norma

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Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico von Campos-Garcia, Felix-Julian, Chacon-Camacho, Oscar F., Contreras-Capetillo, Silvina, Cruz-Aguilar, Marisa, Medina-Escobedo, Carolina E., Moreno-Graciano, Claudia M., Rodas, Agustín, Herrera-Perez, Luz del Alba, Zenteno, Juan C.

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Manejo multidisciplinario con terapia de electroestimulación en un paciente con síndrome de Goldenhar, trastorno de la deglución y falla para crecer von Zenteno-Salazar, Emilio, Sifuentes-Vela, Claudia, Contreras-Capetillo, Silvina, López-Cabrera, Marisol, Núñez-Enríquez, Juan C.

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Frequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study von CONTRERAS-CAPETILLO, SILVINA NOEMI, BLANCO, HUGO LEONID GALLARDO, CERDA-FLORES, RICARDO MARTIN, LUGO-TRAMPE, JOSÉ, TORRES-MUÑOZ, IRIS, BRAVO-ORO, ANTONIO, ESMER, CARMEN, DE VILLARREAL, LAURA ELLA MARTÍNEZ

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15q24 Duplication: A Case Report of Neurodevelopmental Delay von Cámara-Domínguez, Agustín, Stuart-Aguiar, Alexandra Margaret, Fuentes-Canto, Nicte-Há Asunción, Cervera-Rosado, Andrea, Azotla-Vilchis, Cuauhtli Nacxitl, Márquez-Quiroz, Luz del Carmen, Vargas-Méndez, Rodrigo, Contreras-Capetillo, Silvina Noemí

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Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia von Villegas-Ruiz, Vanessa, Campos-Garcia, Felix J., Contreras-Capetillo, Silvina, Moreno-Graciano, Claudia M., Maldonado-Solis, Felipe A., Maldonado-Solis, Mario A., Zenteno, Juan C.

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