Rothmund-Thomson syndrome, a disorder far from solved by Davi Jardim Martins, Ricardo Di Lazzaro Filho, Ricardo Di Lazzaro Filho, Debora Romeo Bertola, Debora Romeo Bertola, Nícolas Carlos Hoch

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Hyaline fibromatosis syndrome: New unifying term and surgical approach by Rafael Denadai, Debora Romeo Bertola, Cassio Eduardo Raposo-Amaral

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Infantile autism and 47,XYY karyotype Autismo infantil e cariótipo 47,XYY by Evelyn Kuczynski, Débora Romeo Bertola, Cláudia Irene Emílio de Castro, Célia Priszkulnik Koiffmann, Chong A. Kim

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Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers by Roberta Lelis Dutra, Patrícia de Campos Pieri, Ana Carolina Dias Teixeira, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim

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Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism by Joanna Goes Castro Meira, Manoel Alfredo Curvelo Sarno, Ágatha Cristhina Oliveira Faria, Guilherme Lopes Yamamoto, Débora Romeo Bertola, Gabriela Gayer Scheibler, Dione Fernandes Tavares, Angelina Xavier Acosta

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A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome by Caio Robledo D'Angioli Costa Quaio, Tatiana Ferreira de Almeida, Lilian Maria José Albano, Israel Gomy, Debora Romeo Bertola, Monica Castro Varela, Celia P. Koiffmann, Chong Ae Kim

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Tegumentary manifestations of Noonan and Noonan-related syndromes by Caio Robledo D'Angioli Costa Quaio, Tatiana Ferreira de Almeida, Amanda Salem Brasil, Alexandre C. Pereira, Alexander A. L. Jorge, Alexsandra C. Malaquias, Chong Ae Kim, Debora Romeo Bertola

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Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport by Danielle de Paula Moreira, Angela May Suzuki, André Luiz Teles e Silva, Elisa Varella-Branco, Maria Cecília Zorél Meneghetti, Gerson Shigeru Kobayashi, Mariana Fogo, Mariana Fogo, Merari de Fátima Ramires Ferrari, Rafaela Regina Cardoso, Naila Cristina Vilaça Lourenço, Karina Griesi-Oliveira, Karina Griesi-Oliveira, Elaine Cristina Zachi, Débora Romeo Bertola, Débora Romeo Bertola, Karina de Souza Weinmann, Marcelo Andrade de Lima, Helena Bonciani Nader, Andrea Laurato Sertié, Maria Rita Passos-Bueno

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Natural history of 39 patients with Achondroplasia by Jose Ricardo Magliocco Ceroni, Diogo Cordeiro de Queiroz Soares, Larissa de Cássia Testai, Rachel Sayuri Honjo Kawahira, Guilherme Lopes Yamamoto, Sofia Mizuho Miura Sugayama, Luiz Antonio Nunes de Oliveira, Debora Romeo Bertola, Chong Ae Kim

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Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity by Carla Sustek D’Angelo, Monica Castro Varela, Claudia Irene Emílio de Castro, Paulo Alberto Otto, Ana Beatriz Alvarez Perez, Charles Marques Lourenço, Chong Ae Kim, Debora Romeo Bertola, Fernando Kok, Luis Garcia-Alonso, Celia Priszkulnik Koiffmann

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Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool by Lucas Vieira Lacerda Pires, Rogério Lemos Ribeiro, Adriana Modesto de Sousa, Bianca Domit Werner Linnenkamp, Sue Ellen Pontes, Maria Cristina Triguero Veloz Teixeira, Debora Maria Befi-Lopes, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim

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