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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 phenotype.
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; Del Pozo, Ángela; Amiel, Jeanne; García-Miñaur, Sixto; Palomares-Bralo, María.
Affiliation
  • Pacio-Miguez M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain.
  • Parrón-Pajares M; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
  • Gordon CT; Servicio de Radiodiagnóstico. Hospital Universitario La Paz, Madrid, Spain.
  • Santos-Simarro F; Skeletal Dysplasia Multidisciplinary Unit (UMDE) and European Reference Network on Rare Bone Diseases ERN-BOND, Hospital Universitario La Paz, Madrid, Spain.
  • Rodríguez Jiménez C; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.
  • Mena R; Service de Génomique des Maladies Rares, Hôpital Necker Enfants Malades, APHP, Paris, France.
  • Rueda Arenas I; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain.
  • F Montaño VE; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
  • Fernández M; Skeletal Dysplasia Multidisciplinary Unit (UMDE) and European Reference Network on Rare Bone Diseases ERN-BOND, Hospital Universitario La Paz, Madrid, Spain.
  • Solís M; ITHACA-European Reference Network, Madrid, Spain.
  • Del Pozo Á; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain.
  • Amiel J; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain.
  • García-Miñaur S; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain.
  • Palomares-Bralo M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain.
Am J Med Genet A ; 188(9): 2819-2824, 2022 09.
Article in En | MEDLINE | ID: mdl-35779070
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Tooth Abnormalities / Craniofacial Abnormalities Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country:
Fulltext
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Print
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Tooth Abnormalities / Craniofacial Abnormalities Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: