Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.

McSherry, Megan; Masih, Katherine E; Elcioglu, Nursel H; Celik, Pelin; Balci, Ozge; Cengiz, Filiz Basak; Nunez, Daniella; Sineni, Claire J; Seyhan, Serhat; Kocaoglu, Defne; Guo, Shengru; Duman, Duygu; Bademci, Guney; Tekin, Mustafa

McSherry, Megan; Masih, Katherine E; Elcioglu, Nursel H; Celik, Pelin; Balci, Ozge; Cengiz, Filiz Basak; Nunez, Daniella; Sineni, Claire J; Seyhan, Serhat; Kocaoglu, Defne; Guo, Shengru; Duman, Duygu; Bademci, Guney; Tekin, Mustafa.

Afiliación

McSherry M; John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States of America.
Masih KE; John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States of America.
Elcioglu NH; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.
Celik P; Eastern Mediterranean University Medical School, Cyprus, Mersin 10, Turkey.
Balci O; Division of Developmental Pediatrics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey.
Cengiz FB; Division of Developmental Pediatrics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey.
Nunez D; John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States of America.
Sineni CJ; John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States of America.
Seyhan S; John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States of America.
Kocaoglu D; John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States of America.
Guo S; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.
Duman D; John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States of America.
Bademci G; Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey.
Tekin M; John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States of America.

PLoS One ; 13(11): e0208324, 2018.

Article en En | MEDLINE | ID: mdl-30500859

Asunto(s)

Codón sin Sentido; Discapacidad Intelectual/genética; Proteínas de la Membrana/genética; Niño; Preescolar; Femenino; Predisposición Genética a la Enfermedad; Humanos; Masculino; Linaje; Mutación Puntual

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Codón sin Sentido / Proteínas de la Membrana / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos

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