Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles

Thrombocytopenia-absent radius (TAR) syndrome is a rare congenital disorder characterized by the bilateral absence of the radius and thrombocytopenia, and sometimes by other skeletal, gastrointestinal, cardiac, and renal abnormalities. The underlying genetic defect is usually the compound inheritanc...

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Detalles Bibliográficos
Autores principales: Monteiro, Catarina, Gonçalves, Ana, Oliveira, Jorge, Salvado, Ramon, Tomaz, Jorge, Morais, Sara, Lima, Margarida, Santos, Rosário
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9455669/
https://www.ncbi.nlm.nih.gov/pubmed/36077017
http://dx.doi.org/10.3390/ijms23179621

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9455669/
https://www.ncbi.nlm.nih.gov/pubmed/36077017
http://dx.doi.org/10.3390/ijms23179621

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