Article
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
Neuropediatrics - 1 Feb 2023
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, Moreno-García Marta
Abstract excerpt
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...
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