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Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.
Zha, Congyao; Farah, Carole A; Holt, Richard J; Ceroni, Fabiola; Al-Abdi, Lama; Thuriot, Fanny; Khan, Arif O; Helaby, Rana; Lévesque, Sébastien; Alkuraya, Fowzan S; Kraus, Alison; Ragge, Nicola K; Sossin, Wayne S.
Afiliação
  • Zha C; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec H3A 2B4, Canada.
  • Farah CA; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec H3A 2B4, Canada.
  • Holt RJ; Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford OX3 0BP, UK.
  • Ceroni F; Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford OX3 0BP, UK.
  • Al-Abdi L; Department of Zoology, College of Science, King Saud University, Riyadh 11564, Saudi Arabia.
  • Thuriot F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.
  • Khan AO; Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke J1H 5N4, Canada.
  • Helaby R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.
  • Lévesque S; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.
  • Alkuraya FS; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine at Case Western University, Cleveland, Ohio 44195, USA.
  • Kraus A; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.
  • Ragge NK; Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke J1H 5N4, Canada.
  • Sossin WS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.
Hum Mol Genet ; 29(18): 3054-3063, 2020 11 04.
Article em En | MEDLINE | ID: mdl-32885237
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Calpaína / Anormalidades do Olho / Predisposição Genética para Doença / Malformações do Sistema Nervoso Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Canadá
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Calpaína / Anormalidades do Olho / Predisposição Genética para Doença / Malformações do Sistema Nervoso Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Canadá