Importance of Family History in the Era of Exome Analysis: A Report of a Family with Multiple Concurrent Genetic Diseases.

Mahtani, Karishma; Park, Diana; Abbott, Jessica; Selvam, Pavalan Panneer; Atwal, Paldeep S

Mahtani, Karishma; Park, Diana; Abbott, Jessica; Selvam, Pavalan Panneer; Atwal, Paldeep S.

Afiliação

Mahtani K; Genomic and Personalized Medicine, Atwal Clinic, Palm Beach, Florida, USA, ha18256@qmul.ac.uk.
Park D; Genomic and Personalized Medicine, Atwal Clinic, Palm Beach, Florida, USA.
Abbott J; Genomic and Personalized Medicine, Atwal Clinic, Palm Beach, Florida, USA.
Selvam PP; Genomic and Personalized Medicine, Atwal Clinic, Palm Beach, Florida, USA.
Atwal PS; Genomic and Personalized Medicine, Atwal Clinic, Palm Beach, Florida, USA.

Hum Hered ; 86(1-4): 28-33, 2021.

Article em En | MEDLINE | ID: mdl-34706366

Assuntos

Síndrome de Birt-Hogg-Dubé; Hiperparatireoidismo Primário; Síndrome de Birt-Hogg-Dubé/genética; Exoma/genética; Humanos; Masculino; Linhagem; Sequenciamento do Exoma

Palavras-chave

Birt-Hogg-Dubé syndrome; CDC73-related primary hyperparathyroidism; Familial prostate cancer; Family history; Fibrofolliculoma; Oculopharyngeal muscular dystrophy; Ptosis; RRM2B-related mitochondrial disease; Whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hiperparatireoidismo Primário / Síndrome de Birt-Hogg-Dubé Limite: Humans / Male Idioma: En Revista: Hum Hered Ano de publicação: 2021 Tipo de documento: Article

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