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

Azab, B., Aburizeg, D., Ji, W., Jeffries, L., Isbeih, N., Al‑Akily, A., Mohammad, H., Osba, Y., Shahin, M., Dardas, Z., Hatmal, M., Al‑Ammouri, I., & Lakhani, S. (2022). 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, 25(6). https://doi.org/10.3892/mmr.2022.12726
Authors:
Bilal Azab
Dunia Aburizeg
Weizhen Ji
Lauren Jeffries
Nooredeen Jamal Isbeih
Amal Saleh Al-Akily
Hashim Mohammad
Yousef Abu Osba
Mohammad A. Shahin
Zain Dardas
Ma'Mon M. Hatmal
Iyad Al-Ammouri
Saquib Lakhani
Affiliated Authors:
Bilal Azab
Columbia Affiliation:
Subjects:
Heart Defects, Congenital (MeSH)
Heart Septal Defects, Atrial (MeSH)
Scimitar Syndrome (MeSH)
T-Box Domain Proteins (MeSH)
Molecular Mechanisms of Cardiac Development and Regeneration (OpenAlex Topic)
Epidemiology and Management of Congenital Heart Disease (OpenAlex Topic)
Clinical Management of Tracheal and Airway Disorders (OpenAlex Topic)
Author Keywords:
t‑box transcription factor 5
congenital heart disease
holt‑oram syndrome
mixed‑type
protein modeling
total anomalous pulmonary venous return
whole‑exome sequencing
t-box transcription factor 5
holt-oram syndrome
mixed-type
whole-exome sequencing
elink
Publication Type:
Article
Unique ID:
10.3892/mmr.2022.12726
PMID:
35514310
DOI:
10.3892/mmr.2022.12726
Journal:
Molecular Medicine Reports
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View Web of Science Record
View OpenAlex Record
View PubMed Record

Record Created: