Identification of the third FGF9 variant in a girl with multiple synostosis–comparison of the genotype:phenotype of FGF9 variants in humans and mice by Sentchordi‐Montané, Lucia, Diaz‐Gonzalez, Francisca, Cátedra‐Vallés, Elena V., Heath, Karen E.

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Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases by 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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IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy by Vasques, Gabriela A, Funari, Mariana F A, Ferreira, Frederico M, Aza-Carmona, Miriam, Sentchordi-Montané, Lucia, Barraza-García, Jimena, Lerario, Antonio M, Yamamoto, Guilherme L, Naslavsky, Michel S, Duarte, Yeda A O, Bertola, Debora R, Heath, Karen E, Jorge, Alexander A L

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Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature by 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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Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects by Díaz-González, Francisca, Sentchordi-Montané, Lucía, Lucas Castro, Elsa, Modamio-Høybjør, Silvia, Heath, Karen E

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Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations by Barraza-García, Jimena, Iván Rivera-Pedroza, Carlos, Salamanca, Luis, Belinchón, Alberta, López-González, Vanesa, Sentchordi-Montané, Lucía, del Pozo, Ángela, Santos-Simarro, Fernando, Campos-Barros, Ángel, Lapunzina, Pablo, Guillén-Navarro, Encarna, González-Casado, Isabel, García-Miñaur, Sixto, Heath, Karen E.

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Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants by 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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Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported by Montané, Lucia Sentchordi, Marín, Oliver R., Rivera-Pedroza, Carlos I., Vallespín, Elena, del Pozo, Ángela, Heath, Karen E.

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Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia by Barca-Tierno, Verónica, Aza-Carmona, Miriam, Barroso, Eva, Heine-Suner, Damia, Azmanov, Dimitar, Rosell, Jordi, Ezquieta, Begoña, Montané, Lucia Sentchordi, Vendrell, Teresa, Cruz, Jaime, Santos, Fernando, Rodríguez, José Ignacio, Pozo, Jesús, Argente, Jesús, Kalaydjieva, Luba, Gracía, Ricardo, Campos-Barros, Ángel, Benito-Sanz, Sara, Heath, Karen E

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Improvisation in times of pandemic, a reason for reflection by Troya, Jesús, Seijo, Luis Miguel, Pérez, Mario, Sentchordi-Montane, Lucia, Martínez-Alcalá, Álvaro

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SUN-LB80 Thyroglossal Duct Cyst Carcinoma in a 12 Year Old Boy. Should Total Thyroidectomy Be Done? by Sitja, Marina Mora, Montane, Lucía Sentchordi, Fernández, María Sanz, Berrocal, Julio Cerdá, Navazo, Sara de la Mata, González-Pinto, Lucía Carrascón, de León, Esther González Ruiz, Rodríguez Arnao, Dolores, Sánchez, Amparo Rodríguez

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