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TBX5 variant with the novel phenotype of mixed-type total anomalous pulmonary venous return in Holt-Oram Syndrome and variable intrafamilial heart defects

Variants in T-box transcription factor 5 (TBX5) can result in a wide phenotypic spectrum, specifically in the heart and the limbs. TBX5 has been implicated in causing non-syndromic cardiac defects and Holt-Oram syndrome (HOS). The present study investigated the underlying molecular etiology of a fam...

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Detalles Bibliográficos
Autores principales:	Azab, Bilal, Aburizeg, Dunia, Ji, Weizhen, Jeffries, Lauren, Isbeih, Nooredeen Jamal, Al-Akily, Amal Saleh, Mohammad, Hashim, Osba, Yousef Abu, Shahin, Mohammad A., Dardas, Zain, Hatmal, Ma'mon M., Al-Ammouri, Iyad, Lakhani, Saquib
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2022
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9133962/ https://www.ncbi.nlm.nih.gov/pubmed/35514310 http://dx.doi.org/10.3892/mmr.2022.12726

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