TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family.

Streff, Haley; Posey, Jennifer E; Mauer, Caitlin B; Krempely, Kate; Potocki, Lorraine; Northrup, Hope

Streff, Haley; Posey, Jennifer E; Mauer, Caitlin B; Krempely, Kate; Potocki, Lorraine; Northrup, Hope.

Afiliação

Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Texas Children's Hospital, Houston, Texas. Electronic address: streff@bcm.edu.
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Mauer CB; Cancer Genetics, UT Southwestern Medical Center, Dallas, Texas.
Krempely K; Ambry Genetics, Aliso Viejo, California.
Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Texas Children's Hospital, Houston, Texas.
Northrup H; Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

Pediatr Neurol ; 110: 89-91, 2020 09.

Article em En | MEDLINE | ID: mdl-32654957

Assuntos

Esclerose Tuberosa/genética; Esclerose Tuberosa/fisiopatologia; Adulto; Idoso; Feminino; Estudos de Associação Genética; Humanos; Masculino; Linhagem; Penetrância; Proteína 1 do Complexo Esclerose Tuberosa

Palavras-chave

Genotype-phenotype; Penetrance; Tuberous sclerosis complex; Variable expressivity

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Esclerose Tuberosa Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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