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6 results on '"Gómez-Cano, María de los Ángeles"'

1. Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia

Author

Sánchez-Cazorla, Eloísa, primary, González-Atienza, Carmen, additional, López-Vázquez, Ana, additional, Arruti, Natalia, additional, Nieves-Moreno, María, additional, Noval, Susana, additional, Mena, Rocío, additional, Rodríguez-Jiménez, Carmen, additional, Rodríguez-Solana, Patricia, additional, González-Iglesias, Eva, additional, Guerrero-Carretero, Marta, additional, D’Anna Mardero, Oriana, additional, Coca-Robinot, Javier, additional, Acal, Juan Carlos, additional, Blasco, Joana, additional, Castañeda, Carlos, additional, Fraile Maya, Jesús, additional, Del Pozo, Ángela, additional, Gómez-Pozo, María V., additional, Montaño, Victoria E. F., additional, Dios-Blázquez, Lucía De, additional, Rodríguez-Antolín, Carlos, additional, Gómez-Cano, María de Los Ángeles, additional, Delgado-Mora, Luna, additional, and Vallespín, Elena, additional

Published
2023
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2. Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus

Author

González-Atienza, Carmen, primary, Sánchez-Cazorla, Eloísa, additional, Villoldo-Fernández, Natalia, additional, del Hierro, Almudena, additional, Boto, Ana, additional, Guerrero-Carretero, Marta, additional, Nieves-Moreno, María, additional, Arruti, Natalia, additional, Rodríguez-Solana, Patricia, additional, Mena, Rocío, additional, Rodríguez-Jiménez, Carmen, additional, Rosa-Pérez, Irene, additional, Acal, Juan Carlos, additional, Blasco, Joana, additional, Naranjo-Castresana, Marta, additional, Ruz-Caracuel, Beatriz, additional, Montaño, Victoria E. F., additional, Ortega Patrón, Cristina, additional, Rubio-Martín, M. Esther, additional, García-Fernández, Laura, additional, Rikeros-Orozco, Emi, additional, Gómez-Cano, María de Los Ángeles, additional, Delgado-Mora, Luna, additional, Noval, Susana, additional, and Vallespín, Elena, additional

Published
2023
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3. Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts

Author

Rodríguez-Solana, Patricia, primary, Arruti, Natalia, additional, Nieves-Moreno, María, additional, Mena, Rocío, additional, Rodríguez-Jiménez, Carmen, additional, Guerrero-Carretero, Marta, additional, Acal, Juan Carlos, additional, Blasco, Joana, additional, Peralta, Jesús M., additional, Del Pozo, Ángela, additional, Montaño, Victoria E. F., additional, Dios-Blázquez, Lucía De, additional, Fernández-Alcalde, Celia, additional, González-Atienza, Carmen, additional, Sánchez-Cazorla, Eloísa, additional, Gómez-Cano, María de Los Ángeles, additional, Delgado-Mora, Luna, additional, Noval, Susana, additional, and Vallespín, Elena, additional

Published
2023
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4. Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families

Author

Soengas-Gonda, Emma, additional, Pérez de la Fuente, Rubén, additional, Arteche-López, Ana, additional, Gómez-Cano, María de los Ángeles, additional, Quesada-Espinosa, Juan Francisco, additional, Palma Milla, Carmen, additional, Lezana Rosales, José Miguel, additional, Mayo de Andrés, Sonia, additional, Sánchez-Calvín, María Teresa, additional, Gómez-Rodríguez, María José, additional, Sierra Tomillo, Olalla, additional, Juarez Rufian, Alexandra, additional, Ramos Gomez, Patricia, additional, Herrero-Forte, Clara, additional, Fenollar-Cortés, Maria, additional, Cotarelo-Pérez, Carmen, additional, García Ron, Adrián, additional, Pérez Rodríguez, Olga, additional, Oancea-Ionescu, Raluca, additional, and Moreno-García, Marta, additional

Published
2022
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5. Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.

Author

Soengas-Gonda, Emma, Pérez de la Fuente, Rubén, Arteche-López, Ana, Gómez-Cano, María de los Ángeles, Quesada-Espinosa, Juan Francisco, Palma Milla, Carmen, Lezana Rosales, José Miguel, Mayo de Andrés, Sonia, Sánchez-Calvín, María Teresa, Gómez-Rodríguez, María José, Sierra Tomillo, Olalla, Juarez Rufian, Alexandra, Ramos Gomez, Patricia, Herrero-Forte, Clara, Fenollar-Cortés, Maria, Cotarelo-Pérez, Carmen, García Ron, Adrián, Pérez Rodríguez, Olga, Oancea-Ionescu, Raluca, and Moreno-García, Marta

Subjects
SHORT stature, PHENOTYPES, SYNDROMES, FAMILIES, GENETIC variation
Abstract

Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the LARP7 gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features. However, the phenotype is not yet well-defined because less than 50 cases have been described to date. Here, we report three new patients from two unrelated Spanish families who, in addition to the defined features of Alazami syndrome, also exhibit unique features that broaden the phenotypic spectrum of the syndrome. Moreover, we describe the novel frameshift variant c.690_699delins27 in the LARP7 gene, in which loss of function is a known mechanism of Alazami syndrome. [ABSTRACT FROM AUTHOR]

Published
2023
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