PS-272 Early Nutrition And Postnatal Growth And The Risk Of Retinopathy Of Prematurity (rop)in Very Preterm Infants (vpi) von Izquierdo, M, Minguez, M, Martinez Monseny, A, Iglesias-Platas, I

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Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature von Alamar, M., Candela, S., Flor-Goikoetxea, A., Salvador, H., Martinez-Monseny, AF, Muchart, J., Hinojosa, J.

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PS-272Early Nutrition And Postnatal Growth And The Risk Of Retinopathy Of Prematurity (rop)in Very Preterm Infants (vpi) von Izquierdo, M, Minguez, M, Martinez Monseny, A, Iglesias-Platas, I

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Early nutrition and postnatal growth and the risk of retinopathy of prematurity von Izquierdo, M, Minguez, M, Monseny, A Martinez, Iglesias-Platas, I

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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals von Nevado, Julián, García-Miñaúr, Sixto, Palomares-Bralo, María, Vallespín, Elena, Guillén-Navarro, Encarna, Rosell, Jordi, Bel-Fenellós, Cristina, Mori, María Ángeles, Milá, Montserrat, Del Campo, Miguel, Barrúz, Pilar, Santos-Simarro, Fernando, Obregón, Gabriela, Orellana, Carmen, Pachajoa, Harry, Tenorio, Jair Antonio, Galán, Enrique, Cigudosa, Juan C, Moresco, Angélica, Saleme, César, Castillo, Silvia, Gabau, Elisabeth, Pérez-Jurado, Luis, Barcia, Ana, Martín, Maria Soledad, Mansilla, Elena, Vallcorba, Isabel, García-Murillo, Pedro, Cammarata-Scalisi, Franco, Gonçalves Pereira, Natálya, Blanco-Lago, Raquel, Serrano, Mercedes, Ortigoza-Escobar, Juan Dario, Gener, Blanca, Seidel, Verónica Adriana, Tirado, Pilar, Lapunzina, Pablo

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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases von Bullich, Gemma, Matalonga, Leslie, Pujadas, Montserrat, Papakonstantinou, Anastasios, Piscia, Davide, Tonda, Raúl, Artuch, Rafael, Gallano, Pia, Garrabou, Glòria, González, Juan R, Grinberg, Daniel, Guitart, Míriam, Laurie, Steven, Lázaro, Conxi, Luengo, Cristina, Martí, Ramon, Milà, Montserrat, Ovelleiro, David, Parra, Genís, Pujol, Aurora, Tizzano, Eduardo, Macaya, Alfons, Palau, Francesc, Ribes, Antònia, Pérez-Jurado, Luis A, Beltran, Sergi

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Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2 von Zarate, Y.A, Bosanko, K.A, Thomas, M.A, Miller, D.T, Cusmano‐Ozog, K, Martinez‐Monseny, A, Curry, C.J, Graham, J.M, Velsher, L, Bekheirnia, M.R, Seidel, V, Dedousis, D, Mitchell, A.L, DiMarino, A.M, Riess, A, Balasubramanian, M, Fish, J.L, Caffrey, A.R, Fleischer, N, Pierson, T.M, Lacro, R.V

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Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model von Jurkute, N, Bertacchi, M, Arno, G, Tocco, C, Kim, US, Kruszewski, AM, Avery, RA, Bedoukian, EC, Han, J, Ahn, SJ, Pontikos, N, Acheson, J, Davagnanam, I, Bowman, R, Kaliakatsos, M, Gardham, A, Wakeling, E, Oluonye, N, Reddy, MA, Clark, E, Rosser, E, Amati-Bonneau, P, Charif, M, Lenaers, G, Meunier, I, Defoort, S, Vincent-Delorme, C, Robson, AG, Holder, GE, Jeanjean, L, Martinez-Monseny, A, Vidal-Santacana, M, Dominici, C, Gaggioli, C, Giordano, N, Caleo, M, Liu, GT, Genomics England Research Consortium, Webster, AR, Studer, M, Yu-Wai-Man, P

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Mutation update for the SATB2 gene von Zarate, Y.A, Bosanko, K.A, Caffrey, A.R, Bernstein, J.A, Martin, D.M, Williams, M.S, Berry-Kravis, E.M, Mark, P.R, Manning, M.A, Bhambhani, V, Vargas, M, Seeley, A.H, Estrada-Veras, J.I, van Dooren, M.F, Schwab, M, Vanderver, A, Melis, D, Alsadah, A, Sadler, L, Van Esch, H, Callewaert, B, Oostra, A, Maclean, J, Dentici, M.L, Orlando, V, Lipson, M, Sparagana, S.P, Maarup, T.J, Alsters, S.I, Brautbar, A, Thropp, E.K, Naidu, S, Lees, M, Smith, D.M, Turner, L, Raggio, V, Spangenberg, L, Garcia-Miñaúr, S, Roeder, E.R, Littlejohn, R.O, Grange, D, Pfotenhauer, J, Jones, M.C, Balasubramanian, M, Martinez-Monseny, A, Blok, L.S, Gavrilova, R, Fish, J.L

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Okur‐Chung neurodevelopmental syndrome in a patient from Spain von Martinez‐Monseny, Antonio F., Casas‐Alba, Dídac, Arjona, César, Bolasell, Mercè, Casano, Paula, Muchart, Jordi, Ramos, Federico, Martorell, Loreto, Palau, Francesc, García‐Alix, Alfredo, Serrano, Mercedes

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Unravelling short stature in pediatrics: the crucial role of genetic perspective von Martinez-Monseny, Antonio F

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Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features von Tenorio‐Castaño, Jair Antonio, Arias, Pedro, Fernández‐Jaén, Alberto, Lay‐Son, Guillermo, Bueno‐Lozano, Gloria, Bayat, Allan, Faivre, Laurence, Gallego, Natalia, Ramos, Sergio, Butler, Kameryn M., Morel, Chantal, Hadjiyannakis, Stasia, Lespinasse, James, Tran‐Mau‐Them, Frederic, Santos‐Simarro, Fernando, Pinson, Lucile, Martínez‐Monseny, Antonio Federico, O'Callaghan Cord, María del Mar, Álvarez, Sara, Stolerman, Elliot S., Washington, Camerun, Ramos, Feliciano J., The S. O. G. R. I. Consortium, Lapunzina, Pablo

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International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up von Altassan, Ruqaiah, Péanne, Romain, Jaeken, Jaak, Barone, Rita, Bidet, Muad, Borgel, Delphine, Brasil, Sandra, Cassiman, David, Cechova, Anna, Coman, David, Corral, Javier, Correia, Joana, de la Morena‐Barrio, María Eugenia, de Lonlay, Pascale, Dos Reis, Vanessa, Ferreira, Carlos R, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Funke, Simone, Gardeitchik, Thatjana, Gert, Matthijs, Girad, Muriel, Giros, Marisa, Grünewald, Stephanie, Hernández‐Caselles, Trinidad, Honzik, Tomas, Hutter, Marlen, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques‐da‐Silva, Dorinda, Martinez, Antonio F, Moravej, Hossein, Õunap, Katrin, Pascoal, Carlota, Pascreau, Tiffany, Patterson, Marc, Quelhas, Dulce, Raymond, Kimiyo, Sarkhail, Peymaneh, Schiff, Manuel, Seroczyńska, Małgorzata, Serrano, Mercedes, Seta, Nathalie, Sykut‐Cegielska, Jolanta, Thiel, Christian, Tort, Federic, Vals, Mari‐Anne, Videira, Paula, Witters, Peter, Zeevaert, Renate, Morava, Eva

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Clinical and genetic spectrum of coloboma: A proposal for a comprehensive approach to pediatric patients von Ferri-Rufete, D, Baleta-Riera, L, Casas-Alba, D, Balsells, S, Llorca-Cardeñosa, A, Barraso, M, Català, J, Casas, E, Díaz, J, Fresno, C, Palau, F, Martínez-Monseny, AF

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Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2 von Zarate, Yuri A., Bosanko, Katherine A., Thomas, Mary Ann, Miller, David T., Cusmano‐Ozog, Kristina, Martinez‐Monseny, Antonio, Curry, Cynthia J., Graham, John M., Velsher, Lea, Bekheirnia, Mir Reza, Seidel, Veronica, Dedousis, Demitrios, Mitchell, Anna L., DiMarino, Amy M., Riess, Angelika, Balasubramanian, Meena, Fish, Jennifer L., Caffrey, Aisling R., Fleischer, Nicole, Pierson, Tyler Mark, Lacro, Ronald V.

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Mutation update for the SATB2 gene von Zarate, Yuri A., Bosanko, Katherine A., Caffrey, Aisling R., Bernstein, Jonathan A., Martin, Donna M., Williams, Marc S., Berry‐Kravis, Elizabeth M., Mark, Paul R., Manning, Melanie A., Bhambhani, Vikas, Vargas, Marcelo, Seeley, Andrea H., Estrada‐Veras, Juvianee I., Dooren, Marieke F., Schwab, Maria, Vanderver, Adeline, Melis, Daniela, Alsadah, Adnan, Sadler, Laurie, Esch, Hilde, Callewaert, Bert, Oostra, Ann, Maclean, Jane, Dentici, Maria Lisa, Orlando, Valeria, Lipson, Mark, Sparagana, Steven P., Maarup, Timothy J., Alsters, Suzanne IM, Brautbar, Ariel, Kovitch, Eliana, Naidu, Sakkubai, Lees, Melissa, Smith, Douglas M., Turner, Lesley, Raggio, Víctor, Spangenberg, Lucía, Garcia‐Miñaúr, Sixto, Roeder, Elizabeth R., Littlejohn, Rebecca O., Grange, Dorothy, Pfotenhauer, Jean, Jones, Marilyn C., Balasubramanian, Meena, Martinez‐Monseny, Antonio, Blok, Lot Snijders, Gavrilova, Ralitza, Fish, Jennifer L.

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Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review von Palma-Milla, Carmen, Prat-Planas, Aina, Soengas-Gonda, Emma, Centeno-Pla, Mónica, Sánchez-Pozo, Jaime, Lazaro-Rodriguez, Irene, Quesada-Espinosa, Juan F., Arteche-Lopez, Ana, Olival, Jonathan, Pacio-Miguez, Marta, Palomares-Bralo, María, Santos-Simarro, Fernando, Cancho-Candela, Ramón, Vázquez-López, María, Seidel, Veronica, Martinez-Monseny, Antonio F., Casas-Alba, Didac, Grinberg, Daniel, Balcells, Susanna, Serrano, Mercedes, Rabionet, Raquel, Martin, Miguel A., Urreizti, Roser

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Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study von Lourdes, Vega-Hanna, Mario, Sanz-Cuesta, Didac, Casas-Alba, Mercè, Bolasell, Loreto, Martorell, Leticia, Pías, Lucia, Feller Ana, Martínez-Monseny, Antonio Federico, Mercedes, Serrano

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A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) von Serrano, Natalia Lourdes, De Diego, Victor, Cuadras, Daniel, Martinez Monseny, Antonio F, Velázquez-Fragua, Ramón, López, Laura, Felipe, Ana, Gutiérrez-Solana, Luis G, Macaya, Alfons, Pérez-Dueñas, Belén, Serrano, Mercedes

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Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum von Urreizti, Roser, Lopez-Martin, Estrella, Martinez-Monseny, Antonio, Pujadas, Montse, Castilla-Vallmanya, Laura, Perez-Jurado, Luis Alberto, Serrano, Mercedes, Natera-de Benito, Daniel, Martinez-Delgado, Beatriz, Posada-de-la-Paz, Manuel, Alonso, Javier, Marin-Reina, Purificacion, O'Callaghan, Mar, Grinberg, Daniel, Bermejo-Sanchez, Eva, Balcells, Susanna

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