Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.

Vincenten, Sanne C C; Van Der Stoep, Nienke; Paulussen, Aimée D C; Mul, Karlien; Badrising, Umesh A; Kriek, Marjolein; Van Der Heijden, Olivier W H; Van Engelen, Baziel G M; Voermans, Nicol C; De Die-Smulders, Christine E M; Lassche, Saskia

Vincenten, Sanne C C; Van Der Stoep, Nienke; Paulussen, Aimée D C; Mul, Karlien; Badrising, Umesh A; Kriek, Marjolein; Van Der Heijden, Olivier W H; Van Engelen, Baziel G M; Voermans, Nicol C; De Die-Smulders, Christine E M; Lassche, Saskia.

Afiliação

Vincenten SCC; Department of Neurology, Neuromuscular Centre Nijmegen, Radboud University Medical Center, Nijmegen, The Netherlands.
Van Der Stoep N; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Paulussen ADC; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands.
Mul K; Department of Neurology, Neuromuscular Centre Nijmegen, Radboud University Medical Center, Nijmegen, The Netherlands.
Badrising UA; Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands.
Kriek M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Van Der Heijden OWH; Department of Obstetrics and Gynaecology, Radboud University Medical Center, Nijmegen, the Netherlands.
Van Engelen BGM; Department of Neurology, Neuromuscular Centre Nijmegen, Radboud University Medical Center, Nijmegen, The Netherlands.
Voermans NC; Department of Neurology, Neuromuscular Centre Nijmegen, Radboud University Medical Center, Nijmegen, The Netherlands.
De Die-Smulders CEM; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands.
Lassche S; Department of Neurology, Neuromuscular Centre Nijmegen, Radboud University Medical Center, Nijmegen, The Netherlands.

Clin Genet ; 101(2): 149-160, 2022 02.

Article em En | MEDLINE | ID: mdl-34297364

Assuntos

Estudos de Associação Genética; Aconselhamento Genético; Predisposição Genética para Doença; Distrofia Muscular Facioescapuloumeral/diagnóstico; Distrofia Muscular Facioescapuloumeral/genética; Adulto; Tomada de Decisão Clínica; Diagnóstico Diferencial; Gerenciamento Clínico; Feminino; Estudos de Associação Genética/métodos; Testes Genéticos; Humanos; Masculino; Herança Multifatorial; Fenótipo; Gravidez; Complicações na Gravidez; Resultado da Gravidez; Diagnóstico Pré-Natal; Índice de Gravidade de Doença

Palavras-chave

delivery; facioscapulohumeral muscular dystrophy; genetics; pregnancy; preimplantation genetic testing; prenatal diagnosis

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Distrofia Muscular Facioescapuloumeral / Estudos de Associação Genética / Aconselhamento Genético Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adult / Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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