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Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
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.
Affiliation
  • Sentchordi-Montané L; Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
  • Benito-Sanz S; Department of Pediatrics, Hospital Universitario Infanta Leonor, Madrid, Spain.
  • Aza-Carmona M; Department of Pediatrics, School of Medicine, Complutense University of Madrid, Madrid, Spain.
  • Pereda A; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.
  • Parrón-Pajares M; Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
  • de la Torre C; CIBERER, ISCIII, Madrid, Spain.
  • Vasques GA; Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
  • Funari MFA; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.
  • Travessa AM; CIBERER, ISCIII, Madrid, Spain.
  • Dias P; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.
  • Suarez-Ortega L; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.
  • González-Buitrago J; Department of Radiology, Hospital Universitario La Paz, Madrid, Spain.
  • Portillo-Najera NE; Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
  • Llano-Rivas I; Unidades de Endocrinologia Genetica (LIM/25), Hospital das Clinicas da Faculdades de Medicina, Universidades de São Paulo, São Paulo, Universidades de São Paulo, São Paulo, Brazil.
  • Martín-Frías M; Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.
  • Ramírez-Fernández J; Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.
  • Sánchez Del Pozo J; Serviςo de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.
  • Garzón-Lorenzo L; Serviςo de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.
  • Martos-Moreno GA; Division of Endocrinology, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Alfaro-Iznaola C; Department of Pediatrics. Hospital San Pedro de Alcántara, Cáceres, Spain.
  • Mulero-Collantes I; Department of Pediatrics, Hospital Alto Deba, 20500 Arrasate, Guipuzkoa, Spain.
  • Ruiz-Ocaña P; Osakidetza Basque Health Service, Cruces University Hospital Department of Genetics, Barakaldo, Bizkaia, Spain.
  • Casano-Sancho P; Department of Pediatric Endocrinology, Hospital Universitario Ramón y Cajal, Madrid, Spain.
  • Portela A; Department of Pediatrics, Hospital Universitario Príncipe de Asturias, Madrid, Spain.
  • Ruiz-Pérez L; Department of Pediatric Endocrinology, Hospital Universitario Doce de Octubre, Madrid, Spain.
  • Del Pozo A; Department of Pediatric Endocrinology, Hospital Universitario Doce de Octubre, Madrid, Spain.
  • Vallespín E; Department of Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación Sanitaria La Princesa, Madrid, Spain.
  • Solís M; Department of Pediatrics, School of Medicine, Universidad Autónoma de Madrid, Madrid, Spain.
  • Lerario AM; CIBEROBN, ISCIII, Madrid, Spain.
  • González-Casado I; Department of Pediatrics, Hospital Universitario Rey Juan Carlos, Móstoles, Madrid, Spain.
  • Ros-Pérez P; Department of Pediatrics, Hospital Universitario Río Hortega, Valladolid, Spain.
  • Pérez de Nanclares G; Department of Pediatrics, Hospital Universitario Puerta del Mar, Cádiz, Spain.
  • Jorge AAL; Department of Pediatric Endocrinology, Institut de Recerca Pediàtrica, Hospital Sant Joan de Déu, University of Barcelona, 08950 Espluges de Llobregat, Barcelona, Spain and CIBERDEM, ISCIII, Madrid, Spain.
  • Heath KE; Department of Pediatric Endocrinology, Pediatric Unit, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerif, Spain.
J Clin Endocrinol Metab ; 105(8)2020 08 01.
Article de En | MEDLINE | ID: mdl-32311039
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Taille / Protéines Hedgehog / Brachydactylie Type d'étude: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limites: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Langue: En Journal: J Clin Endocrinol Metab Année: 2020 Type de document: Article Pays d'affiliation: Espagne
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Taille / Protéines Hedgehog / Brachydactylie Type d'étude: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limites: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Langue: En Journal: J Clin Endocrinol Metab Année: 2020 Type de document: Article Pays d'affiliation: Espagne