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Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease.
Beigi, Fahimeh; Del Pozo-Valero, Marta; Martin-Merida, Inmaculada; Perea-Romero, Irene; Manaviat, Masoud Reza; Ayuso, Carmen; Ghasemi, Nasrin.
Affiliation
  • Beigi F; Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Del Pozo-Valero M; Department of Clinical Genetics and Genomics, University Hospital Fundacion Jimenez Diaz, Health Research Institute Fundacion Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain; CIBERER (Biomedical Research Network Centre for Rare Diseases), ISCIII, Madrid, Spain.
  • Martin-Merida I; Department of Clinical Genetics and Genomics, University Hospital Fundacion Jimenez Diaz, Health Research Institute Fundacion Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain; CIBERER (Biomedical Research Network Centre for Rare Diseases), ISCIII, Madrid, Spain.
  • Perea-Romero I; Department of Clinical Genetics and Genomics, University Hospital Fundacion Jimenez Diaz, Health Research Institute Fundacion Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain; CIBERER (Biomedical Research Network Centre for Rare Diseases), ISCIII, Madrid, Spain.
  • Manaviat MR; Department of Ophthalmology, Shahid Sadoughi University of Medical Science, Yazd Diabetes Research Center, Yazd, Iran.
  • Ayuso C; Department of Clinical Genetics and Genomics, University Hospital Fundacion Jimenez Diaz, Health Research Institute Fundacion Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain; CIBERER (Biomedical Research Network Centre for Rare Diseases), ISCIII, Madrid, Spain.
  • Ghasemi N; Abortion Research Centre, Reproductive Sciences Institute, Yazd Shahid Sadoughi University of Medical Sciences and Health Services, Yazd, Iran. Electronic address: nghasemi479@gmail.com.
Exp Eye Res ; 207: 108533, 2021 06.
Article de En | MEDLINE | ID: mdl-33741323

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Rétinite pigmentaire / Protéines du cycle cellulaire / Consanguinité / Protéines du cytosquelette / Asiatiques / Chaperonines du groupe II / Antigènes néoplasiques Type d'étude: Prognostic_studies Limites: Adult / Child, preschool / Female / Humans Pays/Région comme sujet: Asia Langue: En Journal: Exp Eye Res Année: 2021 Type de document: Article Pays d'affiliation: Iran Pays de publication: Royaume-Uni

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Rétinite pigmentaire / Protéines du cycle cellulaire / Consanguinité / Protéines du cytosquelette / Asiatiques / Chaperonines du groupe II / Antigènes néoplasiques Type d'étude: Prognostic_studies Limites: Adult / Child, preschool / Female / Humans Pays/Région comme sujet: Asia Langue: En Journal: Exp Eye Res Année: 2021 Type de document: Article Pays d'affiliation: Iran Pays de publication: Royaume-Uni