Missense variant in RBM10 associated with mild and non-lethal form of TARP syndrome.

Potter, Amiee B; O'Brien, Timothy D; Kulkarni, Arpita; McCabe, Sarah; Matthews, Kathryn; Kovak, Karen; Rogers, Caleb; Richards, C Sue; Moore, Stephen

Potter, Amiee B; O'Brien, Timothy D; Kulkarni, Arpita; McCabe, Sarah; Matthews, Kathryn; Kovak, Karen; Rogers, Caleb; Richards, C Sue; Moore, Stephen.

Afiliação

Potter AB; Knight Diagnostic Laboratories, Oregon Health & Science University (OHSU), Portland, Oregon, USA.
O'Brien TD; Knight Diagnostic Laboratories, Oregon Health & Science University (OHSU), Portland, Oregon, USA.
Kulkarni A; Knight Diagnostic Laboratories, Oregon Health & Science University (OHSU), Portland, Oregon, USA.
McCabe S; Knight Diagnostic Laboratories, Oregon Health & Science University (OHSU), Portland, Oregon, USA.
Matthews K; Pathology, OHSU, Portland, Oregon, USA.
Kovak K; Molecular and Medical Genetics, OHSU, Portland, Oregon, USA.
Rogers C; Molecular and Medical Genetics, OHSU, Portland, Oregon, USA.
Richards CS; Knight Diagnostic Laboratories, Oregon Health & Science University (OHSU), Portland, Oregon, USA.
Moore S; Molecular and Medical Genetics, OHSU, Portland, Oregon, USA.

Clin Genet ; 104(2): 269-271, 2023 08.

Article em En | MEDLINE | ID: mdl-36932902

Assuntos

Pé Torto Equinovaro; Cardiopatias Congênitas; Síndrome de Pierre Robin; Humanos; Mutação de Sentido Incorreto/genética; Proteínas de Ligação a RNA/genética

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Pierre Robin / Pé Torto Equinovaro / Cardiopatias Congênitas Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google