Esophageal Atresia
What's New
Last Posted: Dec 05, 2023
- Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience.
Mangalore S Shravya et al. Clin Dysmorphol 2023 - No Tissue Expression of KRAS or BRAF Mutations in 61 Adult Patients Treated for Esophageal Atresia in Early Childhood.
Dang Kien Xuan, et al. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 2017 0 (5) 413-419 - Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
Blackburn Patrick R, et al. American journal of medical genetics. Part A 2018 0 (12) 2710-2719 - Identification of rare heterozygous missense mutations in FANCA in esophageal atresia patients using next-generation sequencing.
Feng Yu, et al. Gene 2018 0 182-188 - Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?
Tumini Stefano, et al. Cytogenetic and genome research 2019 0 (3) 121-125 - A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.
van de Putte Romy, et al. Frontiers in pediatrics 2020 0 310 - Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia.
Zhang Rong, et al. PloS one 2020 0 (6) e0234246 - Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing.
Wang Jiayao, et al. European journal of human genetics : EJHG 2020 0 (1) 122-130 - Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association.
Moreno Olga M, et al. Molecular syndromology 2021 0 (5-6) 271-283 - Erratum: Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas.
Zhong Guojie, et al. HGG advances 2022 0 (3) 100126
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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
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