A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency
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
Published in European journal of endocrinology (01.11.2019)
Published in European journal of endocrinology (01.11.2019)
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Journal Article
THU211 Novel SIN3A Loss-Of-Function Variant As Potentially Pathogenic For Hypogonadotropic Hypogonadism In Witteveen-Kolk Syndrome
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
Published in Journal of the Endocrine Society (05.10.2023)
Published in Journal of the Endocrine Society (05.10.2023)
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Journal Article
A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency
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
Published in European journal of endocrinology (01.11.2019)
Published in European journal of endocrinology (01.11.2019)
Get full text
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