Alveolar Capillary Dysplasia
Last Posted: Mar 03, 2023
- Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1.
Bourque Danielle K, et al. American journal of medical genetics. Part A 2019 0 (7) 1325-1329
- Novel parent-of-origin-specific differentially methylated loci on chromosome 16.
Schulze Katharina V, et al. Clinical epigenetics 2019 0 (1) 60
- Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.
Szafranski Przemyslaw, et al. Genome research 2012 0 (1) 23-33
- Incidence of alveolar capillary dysplasia with misalignment of pulmonary veins in infants with unexplained severe pulmonary hypertension: The roles of clinical, pathological, and genetic testing.
Onda Tetsuo, et al. Early human development 2021 1 105323
- Alveolar capillary dysplasia
From NCATS Genetic and Rare Diseases Information Center
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 27, 2023
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