A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency von Keselman, Ana Claudia, Martin, Ayelen, Scaglia, Paula Alejandra, Sanguineti, Nora María, Armando, Romina, Gutiérrez, Mariana, Braslavsky, Débora, Ballerini, María Gabriela, Ropelato, María Gabriela, Ramirez, Laura, Landi, Estefanía, Domené, Sabina, Castro, Julia F, Cassinelli, Hamilton, Casali, Bárbara, del Rey, Graciela, Barros, Ángel Campos, Nevado Blanco, Julián, Domené, Horacio, Jasper, Héctor, Arberas, Claudia, Rey, Rodolfo A, Lapunzina-Badía, Pablo, Bergadá, Ignacio, Pennisi, Patricia A

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Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome von Correa Brito, Lourdes, Keselman, Ana, Villegas, Florencia, Scaglia, Paula, Esnaola Azcoiti, María, Castro, Sebastián, Sanguineti, Nora, Izquierdo, Agustín, Maier, Marianela, Bergadá, Ignacio, Arberas, Claudia, Rey, Rodolfo A, Ropelato, María Gabriela

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An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development von Landi, Estefanía, Karabatas, Liliana, Rodríguez Gomez, Tomás, Salatino, Lucía, Scaglia, Paula, Ramírez, Laura, Keselman, Ana, Braslavsky, Débora, Sanguineti, Nora, Pennisi, Patricia, Rey, Rodolfo A, Bergadá, Ignacio, Jasper, Héctor G, Domené, Horacio M, Plazas, Paola V, Domené, Sabina

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Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations von Gutiérrez, Mariana, Scaglia, Paula, Keselman, Ana, Martucci, Lucía, Karabatas, Liliana, Domené, Sabina, Martin, Ayelen, Pennisi, Patricia, Blanco, Miguel, Sanguineti, Nora, Bezrodnik, Liliana, Di Giovanni, Daniela, Caldirola, María Soledad, Azcoiti, María Esnaola, Gaillard, María Isabel, Denson, Lee A., Zhang, Kejian, Husami, Ammar, Yayah Jones, Nana-Hawa, Hwa, Vivian, Revale, Santiago, Vázquez, Martín, Jasper, Héctor, Kumar, Ashish, Domené, Horacio

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THU211 Novel SIN3A Loss-Of-Function Variant As Potentially Pathogenic For Hypogonadotropic Hypogonadism In Witteveen-Kolk Syndrome von Correa Brito, Lourdes Magdalena, Keselman, Ana Claudia, Sanguineti, Nora Maria, Scaglia, Paula Alejandra, Azcoiti, María Esnaola, Villegas, Florencia, Maier, Marianela, Bergada, Ignacio, Ropelato, Maria Gabriela, Rey, Rodolfo A

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A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI) von Ramírez, Laura, Sanguineti, Nora, Scaglia, Paula, Keselman, Ana, Ballerini, María Gabriela, Karabatas, Liliana, Landi, Estefanía, Castro, Julia, Domené, Sabina, Pennisi, Patricia, Jasper, Héctor, Rey, Rodolfo A., Vázquez, Martín, Domené, Horacio, Bergadá, Ignacio, Gutiérrez, Mariana

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p.R209H GH1 variant challenges short stature assessment von Sanguineti, Nora, Braslavsky, Debora, Scaglia, Paula A., Keselman, Ana, Ballerini, Maria G., Ropelato, Maria G., Suco, Sofia, Vishnopolska, Sebastian, Berenstein, Ariel J., Jasper, Héctor, Domené, Horacio M., Rey, Rodolfo A., Pérez Millán, Maria I., Camper, Sally A., Bergadá, Ignacio

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Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis von Braslavsky, Debora, Scaglia, Paula, Sanguineti, Nora, Aza-Carmona, Miriam, Blanco, Julian Nevado, Lapunzina Badia, Pablo D., Fernandez, Maria del C., Ruiz, Olivia, Carmona, Alejandra, Szlago, Marina, Arberas, Claudia, Cassinelli, Hamilton, Heath, Karen, Rey, Rodolfo, Bergada, Ignacio

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MON-716 A Novel Human Heterozygous STAT5B Variant Leads to Impaired Growth and Developmental Defects in Zebrafish Embryos von Landi, Estefania, Karabatas, Liliana, Ramirez, Laura, Gutierrez, Mariana, Scaglia, Paula Alejandra, Keselman, Ana Claudia, Braslavsky, Debora, Sanguineti, Nora, Bergada, Ignacio, Jasper, Hector Guillermo, Domene, Horacio M, Plazas, Paola, Domene, Sabina

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SUN-245 Heterozygous GH1 p.R209H Variant within a Large Pedigree May Mimic a Growth Hormone Insensitivity Pattern von Sanguineti, Nora, Scaglia, Paula, Braslavsky, Debora, Keselman, Ana, Ballerini, Maria, Ropelato, Maria, Suco, Sofia, Kitzman, Jacob, Vishnopolska, Sebastian, Marti, Marcelo, Domene, Horacio, Rey, Rodolfo, Perez-Millan, Maria, Camper, Sally, Bergadá, Ignacio

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Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis von Braslavsky, Débora, Scaglia, Paula, Sanguineti, Nora, Aza-Carmona, Miriam, Nevado Blanco, Julián, Lapunzina Badia, Pablo D, Fernández, María Del C, Ruiz, Olivia, Carmona, Alejandra, Szlago, Marina, Arberas, Claudia, Cassinelli, Hamilton, Heath, Karen, Rey, Rodolfo, Bergadá, Ignacio

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Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome von Correa Brito, Lourdes, Keselman, Ana, Villegas, Florencia, Scaglia, Paula, Esnaola Azcoiti, María, Castro, Sebastián, Sanguineti, Nora, Izquierdo, Agustín, Maier, Marianela, Bergadá, Ignacio, Arberas, Claudia, Rey, Rodolfo A, Ropelato, María Gabriela

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A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency von Keselman, Ana Claudia, Martin, Ayelen, Scaglia, Paula Alejandra, Sanguineti, Nora María, Armando, Romina, Gutiérrez, Mariana, Braslavsky, Débora, Ballerini, María Gabriela, Ropelato, María Gabriela, Ramirez, Laura, Landi, Estefanía, Domené, Sabina, Castro, Julia F, Cassinelli, Hamilton, Casali, Bárbara, Del Rey, Graciela, Barros, Ángel Campos, Nevado Blanco, Julián, Domené, Horacio, Jasper, Héctor, Arberas, Claudia, Rey, Rodolfo A, Lapunzina-Badía, Pablo, Bergadá, Ignacio, Pennisi, Patricia A

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