Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development by Gabriella S. P. Hsia, Camila M. Musso, Lucas Alvizi, Luciano A. Brito, Gerson S. Kobayashi, Rita C. M. Pavanello, Mayana Zatz, Alice Gardham, Emma Wakeling, Roseli M. Zechi-Ceide, Debora Bertola, Debora Bertola, Maria Rita Passos-Bueno

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Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review by Lilian Maria José Albano, Silvana Angelina Dório Nishioka, Regina Lucia Moysés, Jaqueline Wagenführ, Débora Bertola, Sofia Mizuho Miura Sugayama, A. Kim Chong

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Childhood Hypophosphatasia Associated with a Novel Biallelic <i>ALPL</i> Variant at the TNSALP Dimer Interface by Luciane Martins, Luis Gustavo F. Lessa, Taccyanna M. Ali, Monize Lazar, Chong A. Kim, Kamila R. Kantovitz, Mauro P. Santamaria, Cássia F. Araújo, Carolina J. Ramos, Brian L. Foster, José Francisco S. Franco, Débora Bertola, Francisco H. Nociti

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P233: Health-related quality of life in achondroplasia: Findings from LISA, a multinational and observational study in Latin America by Juan Llerena, Jr, Virginia Fano, Pablo Rosselli, Mariana del Pino, Cristina Valenzuela, Janeth Méndez, Nicolette Cavalcanti, Paula Thomazinho, Amanda Aragão, José Thomaz, Tom Butt, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Renée Shediac, Tatiana Magalhães, Debora Bertola, Chong Kim

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Development of a comprehensive noninvasive prenatal test by Carolina Malcher, Guilherme L. Yamamoto, Philip Burnham, Suzana A.M. Ezquina, Naila C.V. Lourenço, Sahilla Balkassmi, David S. Marco Antonio, Gabriella S.P. Hsia, Thomaz Gollop, Rita C. Pavanello, Marco Antonio Lopes, Egbert Bakker, Mayana Zatz, Débora Bertola, Iwijn De Vlaminck, Maria Rita Passos-Bueno

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Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia... by Juan Llerena, Jr, Pablo Rosselli, Amanda Aragão, Cristina Valenzuela, Debora Bertola, Yaneth Mendez, Mariana del Pino, Nicolette Calvacanti, Paula Thomazinho, Jeanne M. Pimenta, Shelda Cohen, Tom Butt, José C. Thomaz, Jr, Renée Shediac, Richard Rowell, Tatiana S.P.C. Magalhães, Chong Kim, Virginia Fano

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Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy. by Danielle P Moreira, Karina Griesi-Oliveira, Ana L Bossolani-Martins, Naila C V Lourenço, Vanessa N O Takahashi, Kátia M da Rocha, Eloisa S Moreira, Estevão Vadasz, Joanna Goes Castro Meira, Debora Bertola, Eoghan O'Halloran, Tiago R Magalhães, Agnes C Fett-Conte, Maria Rita Passos-Bueno

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Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients by Juan Llerena, Chong Ae Kim, Virginia Fano, Pablo Rosselli, Paulo Ferrez Collett-Solberg, Paula Frassinetti Vasconcelos de Medeiros, Mariana del Pino, Débora Bertola, Charles Marques Lourenço, Denise Pontes Cavalcanti, Têmis Maria Félix, Antonio Rosa-Bellas, Norma Teresa Rossi, Fanny Cortes, Flávia Abreu, Nicolette Cavalcanti, Maria Cecilia Hervias Ruz, Wagner Baratela

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Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. by Lisenka E L M Vissers, Timothy C Cox, A Murat Maga, Kieran M Short, Fenny Wiradjaja, Irene M Janssen, Fernanda Jehee, Debora Bertola, Jia Liu, Garima Yagnik, Kiyotoshi Sekiguchi, Daiji Kiyozumi, Hans van Bokhoven, Carlo Marcelis, Michael L Cunningham, Peter J Anderson, Simeon A Boyadjiev, Maria Rita Passos-Bueno, Joris A Veltman, Ian Smyth, Michael F Buckley, Tony Roscioli

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