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Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.
Travessa, André M; Díaz-González, Francisca; Mirco, Teresa; Oliveira-Ramos, Filipa; Parrón-Pajares, Manuel; Heath, Karen E; Sousa, Ana Berta.
Affiliation
  • Travessa AM; Department of Medical Genetics, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.
  • Díaz-González F; Institute of Histology and Developmental Biology, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
  • Mirco T; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, Universidad Autonóma de Madrid (UAM), and CIBERER, ISCIII, Madrid, Spain.
  • Oliveira-Ramos F; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, UAM, Madrid, Spain.
  • Parrón-Pajares M; Department of Physical Therapy and Rehabilitation, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.
  • Heath KE; Department of Rheumatology, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.
  • Sousa AB; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, UAM, Madrid, Spain.
Am J Med Genet A ; 182(11): 2715-2721, 2020 11.
Article in En | MEDLINE | ID: mdl-32856782
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Phenotype / Collagen Type II / Mutation Limits: Child / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Phenotype / Collagen Type II / Mutation Limits: Child / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: