Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases von Díaz‐González, Francisca, Parrón‐Pajares, Manuel, Lucas‐Castro, Elsa, Modamio‐Høybjør, Silvia, Sentchordi‐Montané, Lucia, Seidel, Verónica, Prieto, Pablo, Tarraso‐Urios, Guillermo, Codina‐Sola, Marta, Cueto‐González, Anna M., Ballesta‐Martínez, Mary J., Santos‐Simarro, Fernando, Sousa, Sergio B., Heath, Karen E.

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Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial ph... von Pacio‐Miguez, Marta, Parrón‐Pajares, Manuel, Gordon, Christopher T., Santos‐Simarro, Fernando, Rodríguez Jiménez, Carmen, Mena, Rocio, Rueda Arenas, Inmaculada, F. Montaño, Victoria Eugenia, Fernández, María, Solís, Mario, Pozo, Ángela, Amiel, Jeanne, García‐Miñaur, Sixto, Palomares‐Bralo, María

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Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature von Siccha, Sofía M., Cueto, Anna María, Parrón‐Pajares, Manuel, González‐Morán, Gaspar, Pacio‐Miguez, Marta, Del Pozo, Ángela, Solís, Mario, Rodriguez‐Jimenez, Carmen, Caino, Silvia, Fano, Virginia, Heath, Karen E., García‐Miñaúr, Sixto, Palomares‐Bralo, María, Santos‐Simarro, Fernando

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Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals von Suter, Aude‐Annick, Santos‐Simarro, Fernando, Toerring, Pernille Mathiesen, Abad Perez, Angela, Ramos‐Mejia, Rosario, Heath, Karen E., Huckstadt, Victoria, Parrón‐Pajares, Manuel, Mensah, Martin Atta, Hülsemann, Wiebke, Holtgrewe, Manuel, Mundlos, Stefan, Kornak, Uwe, Bartsch, Oliver, Ehmke, Nadja

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Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy von Travessa, André M., Díaz‐González, Francisca, Mirco, Teresa, Oliveira‐Ramos, Filipa, Parrón‐Pajares, Manuel, Heath, Karen E., Sousa, Ana Berta

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First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction von Díaz‐González, Francisca, Parrón‐Pajares, Manuel, Barcia‐Ramirez, Ana, Heath, Karen E.

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Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature von Sentchordi‐Montané, Lucía, Aza‐Carmona, Miriam, Benito‐Sanz, Sara, Barreda‐ Bonis, Ana C., Sánchez‐Garre, Consuelo, Prieto‐Matos, Pablo, Ruiz‐Ocaña, Pablo, Lechuga‐Sancho, Alfonso, Carcavilla‐Urquí, Atilano, Mulero‐Collantes, Inés, Martos‐Moreno, Gabriel A., del Pozo, Angela, Vallespín, Elena, Offiah, Amaka, Parrón‐Pajares, Manuel, Dinis, Isabel, Sousa, Sergio B., Ros‐Pérez, Purificación, González‐Casado, Isabel, Heath, Karen E.

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High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies von Sentchordi-Montané, Lucía, Benito-Sanz, Sara, Aza-Carmona, Miriam, Díaz-González, Francisca, Modamio-Høybjør, Silvia, de la Torre, Carolina, Nevado, Julián, Ruiz-Ocaña, Pablo, Bezanilla-López, Carolina, Prieto, Pablo, Bahíllo-Curieses, Pilar, Carcavilla, Atilano, Mulero-Collantes, Inés, Barreda-Bonis, Ana C, Cruz-Rojo, Jaime, Ramírez-Fernández, Joaquín, Bermúdez de la Vega, José Antonio, Travessa, André M, González de Buitrago Amigo, Jesús, del Pozo, Angela, Vallespín, Elena, Solís, Mario, Goetz, Carlos, Campos-Barros, Ángel, Santos-Simarro, Fernando, González-Casado, Isabel, Ros-Pérez, Purificación, Parrón-Pajares, Manuel, Heath, Karen E

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Congenital metastatic neuroblastoma with placental involvement as a rare cause of non‐immune fetal hydrops von Campillo‐Ajenjo, Marta, Pena‐Burgos, Eva Manuela, Herrero Ruiz, Beatriz, Escuer Albero, Guillermo, Rubio Aparicio, Pedro, Parrón Pajares, Manuel, Bret Zurita, Montserrat, Regojo‐Zapata, Rita María, Bartha Rasero, José Luis, Antolín Alvarado, Eugenia

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Case report: A third variant in the 5' UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome von Diaz-Gonzalez, Francisca, Sacedo-Gutiérrez, Javier M, Twigg, Stephen R F, Calpena, Eduardo, Carceller-Benito, Fernando E, Parrón-Pajares, Manuel, Santos-Simarro, Fernando, Heath, Karen E

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Impact of muscle mass on the prognosis of liver transplantation for infants with biliary atresia von Lledín, María D, Parrón-Pajares, Manuel, Morais, Ana, Hernández-Oliveros, Francisco, Botella-Carretero, Jose I, Hierro, Loreto

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Estreñimiento crónico debido a síndrome de Currarino von Buitrago Sánchez, Nelson M., Saceda Gutiérrez, Javier M., Esteban Rodríguez, María I., Parrón Pajares, Manuel

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Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants von del Pino, Mariana, Sanchez-Soler, Maria José, Parrón-Pajares, Manuel, Aza-Carmona, Miriam, Heath, Karen E., Fano, Virginia

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Pancreatic Cystosis in Children and Young Adults with Cystic Fibrosis: Sonographic, CT, and MRI Findings von Berrocal, Teresa, Pajares, Manuel Parron, Zubillaga, Amelia Fernandez

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Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2 von Bonilla-Fornés, Samuel, Galán-Ledesma, Lourdes, Pérez, Pilar Méndez, Modamio-Høybjør, Silvia, Carbonell-Pérez, José María, Parrón-Pajares, Manuel, Heath, Karen E., Galán-Gómez, Enrique

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Severe Thrombocytopenia as the Main Manifestation of Childhood-Onset Systemic Lupus Erythematosus von Quintana-Ortega, Cristian, Remesal, Agustín, Vigara, Ana Pérez, Parrón-Pajares, Manuel, Bret, Montserrat, Alcobendas, Rosa, Murias, Sara

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Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals von Suter, Aude-Annick, Santos-Simarro, Fernando, Toerring, Pernille Mathiesen, Abad Perez, Angela, Ramos-Mejia, Rosario, Heath, Karen E, Huckstadt, Victoria, Parrón-Pajares, Manuel, Mensah, Martin Atta, Hülsemann, Wiebke, Holtgrewe, Manuel, Mundlos, Stefan, Kornak, Uwe, Bartsch, Oliver, Ehmke, Nadja

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Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants von Sentchordi-Montané, Lucía, Benito-Sanz, Sara, Aza-Carmona, Miriam, Pereda, Arrate, Parrón-Pajares, Manuel, de la Torre, Carolina, Vasques, Gabriela A, Funari, Mariana F A, Travessa, André M, Dias, Patrícia, Suarez-Ortega, Larisa, González-Buitrago, Jesús, Portillo-Najera, Nancy Elizabeth, Llano-Rivas, Isabel, Martín-Frías, María, Ramírez-Fernández, Joaquín, Sánchez Del Pozo, Jaime, Garzón-Lorenzo, Lucía, Martos-Moreno, Gabriel A, Alfaro-Iznaola, Cristina, Mulero-Collantes, Inés, Ruiz-Ocaña, Pablo, Casano-Sancho, Paula, Portela, Ana, Ruiz-Pérez, Lorea, Del Pozo, Angela, Vallespín, Elena, Solís, Mario, Lerario, Antônio M, González-Casado, Isabel, Ros-Pérez, Purificación, Pérez de Nanclares, Guiomar, Jorge, Alexander A L, Heath, Karen E

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High-Resolution Computed Tomography Patterns of Organizing Pneumonia von Soberón, Alberto Bravo, Sánchez, María Isabel Torres, Río, Francisco García, Almaraz, Carlos Sánchez, Pajares, Manuel Parrón, Rodríguez, Mercedes Pardo

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Chronic constipation due to Currarino syndrome von Buitrago Sánchez, Nelson M, Saceda Gutiérrez, Javier M, Esteban Rodríguez, María I, Parrón Pajares, Manuel

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