Pulmonary Atresia With Ventricular Septal Defect
What's New
Last Posted: Mar 01, 2023
- A loss-of-function mutation p.T256M in NDRG4 is implicated in the pathogenesis of pulmonary atresia with ventricular septal defect (PA/VSD) and tetralogy of Fallot (TOF).
Peng Jiayu, et al. FEBS open bio 2020 0 (2) 375-385 - The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.
Nisselrooij Amber E L van et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr - Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect.
Xie Huilin, et al. Frontiers in genetics 2019 0 15 - Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus.
Xu YJ, et al. BMC medical genetics 2011 12 (1) 1 - Pulmonary atresia with ventricular septal defect
From NCATS Genetic and Rare Diseases Information Center
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
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- Page last reviewed:Feb 1, 2024
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