Persistent Truncus Arteriosus
What's New
Last Posted: Mar 04, 2023
- GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.
Škori?-Milosavljevi? Doris, et al. American journal of medical genetics. Part A 2019 0 (9) 1836-1845 - Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects.
Wang Xike, et al. Molecular medicine reports 2014 8 (2) 743-8 - Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease.
Xiong Fu, et al. Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology 0 0 (2) 141-5 - Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Guo Tingwei, et al. Human mutation 2011 11 (11) 1278-89 - Persistent truncus arteriosus
From NCATS Genetic and Rare Diseases Information Center - A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.
Lin Xiaoping, et al. Journal of human genetics 2010 10 (10) 662-7 - Association of the C677T methylenetetrahydrofolate reductase mutation with congenital heart diseases.
Lee Chien-Nan, et al. Acta obstetricia et gynecologica Scandinavica 2005 12 (12) 1134-40
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:May 01, 2024
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