First reported adult patient with TARP syndrome: A case report.

Højland, Allan T; Lolas, Ihab; Okkels, Henrik; Lautrup, Charlotte K; Diness, Birgitte R; Petersen, Michael B; Nielsen, Irene K

Højland, Allan T; Lolas, Ihab; Okkels, Henrik; Lautrup, Charlotte K; Diness, Birgitte R; Petersen, Michael B; Nielsen, Irene K.

Afiliación

Højland AT; Research and Knowledge Center in Sensory Genetics, Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.
Lolas I; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.
Okkels H; Research and Knowledge Center in Sensory Genetics, Section of Molecular Diagnostics, Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark.
Lautrup CK; Research and Knowledge Center in Sensory Genetics, Section of Molecular Diagnostics, Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark.
Diness BR; Research and Knowledge Center in Sensory Genetics, Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.
Petersen MB; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.
Nielsen IK; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen.

Am J Med Genet A ; 176(12): 2915-2918, 2018 12.

Article en En | MEDLINE | ID: mdl-30462380

Asunto(s)

Pie Equinovaro/diagnóstico; Pie Equinovaro/genética; Cardiopatías Congénitas/diagnóstico; Cardiopatías Congénitas/genética; Síndrome de Pierre Robin/diagnóstico; Síndrome de Pierre Robin/genética; Adulto; Pie Equinovaro/terapia; Análisis Mutacional de ADN; Facies; Estudios de Asociación Genética/métodos; Predisposición Genética a la Enfermedad; Cardiopatías Congénitas/terapia; Humanos; Mutación con Pérdida de Función; Masculino; Sistemas de Lectura Abierta; Linaje; Fenotipo; Síndrome de Pierre Robin/terapia; Proteínas de Unión al ARN/genética

Palabras clave

Pierre Robin syndrome; RBM10; RNA-binding proteins; TARP syndrome; clubfoot; heart septal defects, congenital; intellectual disability; mental retardation, X-linked; scoliosis

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Pierre Robin / Pie Equinovaro / Cardiopatías Congénitas Tipo de estudio: Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Dinamarca

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google