Výsledky vyhledávání - "C. E. Steiner"

Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G→C splice-site mutation in the ALDH3A2 gene

Autor: Edi Lúcia Sartorato, Fabiana Alexandrino, William B Rizzo, Maria Letícia Cintra, G. Carney, T. S. Aguiar, C. E. Steiner, R. D. Azulay, Mariam Patrícia Auada, Maria Beatriz Puzzi

Publikováno v: British Journal of Dermatology. 154:770-773

Sjogren–Larsson syndrome (SLS; OMIM 270200) is an autosomal recessive disorder characterized by the presence of pruritic ichthyosis, mental retardation, spastic diplegia or tetraplegia, retinal perimacular ‘glistening white dots’ and photophobi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4fc4275f0ce3f22e52873bdab072ad18
https://doi.org/10.1111/j.1365-2133.2006.07135.x

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Spondylocarpotarsal synostosis with ocular findings

Autor: C E, Steiner, M, Torriani, D Y, Norato, A P, Marques-de-Faria

Publikováno v: American journal of medical genetics. 91(2)

We report on three sibs presenting with spondylocarpotarsal synostosis, short-trunk dwarfism of postnatal onset, scoliosis, unsegmented thoracic vertebrae with unilateral bar, and carpal bone fusion. Tarsal bone fusion and dental abnormalities were n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d60615650b05c054dc5957027143785d
https://pubmed.ncbi.nlm.nih.gov/10748412

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