Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders von Rezende, Raissa Carneiro, Menezes de Andrade, Nathalia Liberatoscioli, Branco Dantas, Naiara Castelo, de Polli Cellin, Laurana, Victorino Krepischi, Ana Cristina, Lerario, Antonio Marcondes, de Lima Jorge, Alexander Augusto

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OR21-02 Diagnostic Yield Of A Multigene Approach In Children With Short Stature Of Unknown Cause von De Andrade, Nathalia Liberatoscioli Menezes, de Assis Funari, Mariana Ferreira, Malaquias, Alexsandra, Branco Dantas, Naiara Castelo, Rezende, Raissa, de Polli Cellin, Laurana, Homma, Thais Kataoka, Lerario, Antonio Marcondes, Arnhold, Ivo J, Vasques, Gabriela Andrade, Lima Jorge, Alexander Augusto

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THU169 Role Of Growth Hormone (GH) Therapy In Short Children With Skeletal Dysplasias And Pathogenic Variants In The COL2A1 Gene von de Polli Cellin, Laurana, Guimaraes, Kayleigh Goncalves, De Andrade, Nathalia Liberatoscioli Menezes, Vasques, Gabriela Andrade, de Oliveira Goiano, Ellen, Akkari, Miguel, Santili, Claudio, Lima Jorge, Alexander Augusto, Malaquias, Alexsandra C

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THU160 A Prospective Genetic Analysis Of Children With Idiopathic Short Stature (ISS) Using Whole-exome Sequencing (WES): First Results von de Polli Cellin, Laurana, Menezes De Andrade, Nathalia Liberatoscioli, Rezende, Raíssa Carneiro, Rezende, Raíssa, Souza, Vinicius, Branco Dantas, Naiara Castelo, Quedas, Elisangela, de Assis Funari, Mariana Ferreira, Vasques, Gabriela, Da Cunha Scalco, Renata, Malaquias, Alexsandra C, Jorge, Alexander

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SAT-096 Response to RHGH Therapy in Children with Isolated Short Stature with or Without an Identified Genetic Cause von De Andrade, Nathalia Liberatoscioli Menezes, Vasques, Gabriela Andrade, Funari, Mariana Ferreira de Assis, Mendonca, Berenice Bilharinho, Jorge, Alexander Augusto Lima

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Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature von Andrade, Nathalia Liberatoscioli Menezes, Funari, Mariana Ferreira de Assis, Malaquias, Alexsandra Christianne, Collett-Solberg, Paulo Ferrez, Gomes, Nathalia L R A, Scalco, Renata, Dantas, Naiara Castelo Branco, Rezende, Raissa C, Tiburcio, Angelica M F P, Souza, Micheline A R, Freire, Bruna L, Krepischi, Ana C V, Longui, Carlos Alberto, Lerario, Antonio Marcondes, Arnhold, Ivo J P, Jorge, Alexander A L, Vasques, Gabriela Andrade

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Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant von Akgun-Dogan, Ozlem, Díaz-González, Francisca, de Lima Jorge, Alexander Augusto, Onenli-Mungan, Neslihan, Menezes Andrade, Nathalia Liberatoscioli, de Polli Cellin, Laurana, Ceylaner, Serdar, Barcellos Rosa Modkovski, Maria, Alanay, Yasemin, Heath, Karen E.

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