Last Posted: Sep 29, 2021
- The association between polymorphisms in PITX2 and congenital esophageal atresia susceptibility.
Ke Jiangwei, et al. American journal of translational research 2021 0 (8) 9808-9813
- Pharmacogenomics fail to explain proton pump inhibitor refractory esophagitis in pediatric esophageal atresia.
Yasuda Jessica L, et al. Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society 2021 8 e14217
- Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia.
Rohanizadegan Mersedeh et al. American journal of medical genetics. Part A 2020 Jun
- Genetic Testing in a Cohort of Complex Esophageal Atresia.
Beauregard-Lacroix Eliane et al. Molecular syndromology 2017 Aug 8(5) 236-243
- Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.
Hilger Alina C, et al. Human mutation 2015 8
- Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.
Zeidler Claudia, et al. Birth defects research. Part A, Clinical and molecular teratology 2014 10 (10) 750-9
- Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.
Winberg Johanna, et al. PloS one 2014 0 (1) e85313
- De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.
Hilger Alina, et al. European journal of human genetics : EJHG 2013 12 (12) 1377-82
- Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients.
Murphy Andrew J, et al. Pediatric surgery international 2012 4 (4) 335-40
- Anophthalmia esophageal atresia cryptorchidism
From NCATS Genetic and Rare Diseases Information Center
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
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
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics 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.