Microarray diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy caused by a novel homozygous intragenic AIRE deletion.

Akesson, Lauren S; Francis, David; G de Silva, Michelle; Cole, Theresa; Simm, Peter; Oliver, Mark; White, Susan M

Akesson, Lauren S; Francis, David; G de Silva, Michelle; Cole, Theresa; Simm, Peter; Oliver, Mark; White, Susan M.

Afiliación

Akesson LS; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Francis D; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.
G de Silva M; Parkville Familial Cancer Centre and Department of Genomic Medicine, Royal Melbourne Hospital, Melbourne, Victoria, Australia.
Cole T; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Simm P; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Oliver M; Department of Immunology, Royal Children's Hospital, Melbourne, Victoria, Australia.
White SM; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.

J Paediatr Child Health ; 57(7): 1109-1112, 2021 07.

Article en En | MEDLINE | ID: mdl-32866290

Asunto(s)

Poliendocrinopatías Autoinmunes; Humanos; Mutación; Poliendocrinopatías Autoinmunes/diagnóstico; Poliendocrinopatías Autoinmunes/genética

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Poliendocrinopatías Autoinmunes Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: J Paediatr Child Health Asunto de la revista: PEDIATRIA Año: 2021 Tipo del documento: Article País de afiliación: Australia

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