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Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.
Marakhonov, Andrey V; Voskresenskaya, Anna A; Ballesta, Maria Jose; Konovalov, Fedor A; Vasilyeva, Tatyana A; Blanco-Kelly, Fiona; Pozdeyeva, Nadezhda A; Kadyshev, Vitaly V; López-González, Vanesa; Guillen, Encarna; Ayuso, Carmen; Zinchenko, Rena A; Corton, Marta.
Afiliação
  • Marakhonov AV; Research Centre for Medical Genetics, Moskvorechie Str., 1, Moscow, Russian Federation. marakhonov@generesearch.ru.
  • Voskresenskaya AA; Cheboksary Branch of the S. Fyodorov Eye Microsurgery Federal State Institution, Cheboksary, Russian Federation.
  • Ballesta MJ; Medical Genetics Department, University Hospital Virgen de la Arrixaca, Murcia, Spain.
  • Konovalov FA; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII - Instituto de Salud Carlos III, Madrid, Spain.
  • Vasilyeva TA; Independent Clinical Bioinformatics Laboratory, Moscow, Russian Federation.
  • Blanco-Kelly F; Research Centre for Medical Genetics, Moskvorechie Str., 1, Moscow, Russian Federation.
  • Pozdeyeva NA; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII - Instituto de Salud Carlos III, Madrid, Spain.
  • Kadyshev VV; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Av. Reyes Católicos n° 2, 28040, Madrid, Spain.
  • López-González V; Cheboksary Branch of the S. Fyodorov Eye Microsurgery Federal State Institution, Cheboksary, Russian Federation.
  • Guillen E; Research Centre for Medical Genetics, Moskvorechie Str., 1, Moscow, Russian Federation.
  • Ayuso C; Medical Genetics Department, University Hospital Virgen de la Arrixaca, Murcia, Spain.
  • Zinchenko RA; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII - Instituto de Salud Carlos III, Madrid, Spain.
  • Corton M; Medical Genetics Department, University Hospital Virgen de la Arrixaca, Murcia, Spain.
Orphanet J Rare Dis ; 15(1): 207, 2020 08 13.
Article em En | MEDLINE | ID: mdl-32791987
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Catarata / Anormalidades do Olho / Cristalinas Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Catarata / Anormalidades do Olho / Cristalinas Idioma: En Ano de publicação: 2020 Tipo de documento: Article