Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis.

Jobling, R K; Lara-Corrales, I; Hsiao, M-C; Shugar, A; Hedges, S; Messiaen, L; Kannu, P

Jobling, R K; Lara-Corrales, I; Hsiao, M-C; Shugar, A; Hedges, S; Messiaen, L; Kannu, P.

Afiliação

Jobling RK; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Lara-Corrales I; Section of Dermatology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Hsiao MC; Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, AL, U.S.A.
Shugar A; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Hedges S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Messiaen L; Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, AL, U.S.A.
Kannu P; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

Br J Dermatol ; 176(4): 1077-1078, 2017 04.

Article em En | MEDLINE | ID: mdl-27423141

Assuntos

Manchas Café com Leite/genética; Peptídeos e Proteínas de Sinalização Intracelular/genética; Proteínas de Membrana/genética; Mosaicismo; Deleção de Sequência/genética; Proteínas Adaptadoras de Transdução de Sinal; Adolescente; Manchas Café com Leite/diagnóstico; Diagnóstico Diferencial; Heterozigoto; Humanos; Masculino; Neurofibromatose 1/diagnóstico; Neurofibromatose 1/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deleção de Sequência / Manchas Café com Leite / Peptídeos e Proteínas de Sinalização Intracelular / Proteínas de Membrana / Mosaicismo Tipo de estudo: Diagnostic_studies Limite: Adolescent / Humans / Male Idioma: En Revista: Br J Dermatol Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Canadá

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