Article
TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects.
Molecular medicine reports - 1 Jun 2022
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
Abstract excerpt
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 family with heterogeneous heart defects. The proband had mixed‑type total anomalous pulmonary venous return (mixed‑type...
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