Congenital Diaphragmatic Hernia
What's New
Last Posted: Mar 16, 2023
- The CDH patient perspective journey.
Beverley Power et al. Frontiers in pediatrics 2023 111052422 - The Genomics of Congenital Diaphragmatic Hernia: A 10 Year Retrospective Review.
Wild K Taylor et al. The Journal of pediatrics 2022 - Underlying Genetic Etiologies of Congenital Diaphragmatic Hernia.
Scott Daryl A et al. Prenatal diagnosis 2022 - Genetic Diagnostic Strategies and Counseling for Families Affected by Congenital Diaphragmatic Hernia.
Bendixen Charlotte et al. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 2021 31(6) 472-481 - Genomics elucidates both common and rare disease aetiology
A McNeil, EJHG, November 26, 2021 - Genetics of diaphragmatic hernia.
Schreiner Yannick et al. European journal of human genetics : EJHG 2021 10 - The Role of De Novo Variants in Patients with Congenital Diaphragmatic Hernia.
Bendixen Charlotte et al. Genes 2021 12(9) - The influence of genetics in congenital diaphragmatic hernia.
Yu Lan et al. Seminars in perinatology 2019 Aug 151169 - For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome.
Plachý Luká? et al. Pediatric endocrinology reviews : PER 2018 Sep 16(1) 171-177 - Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.
Salzano E et al. American journal of medical genetics. Part A 2018 Oct
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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
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
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- Fragile X Syndrome
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- Graves Disease
- Hemophilia
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- 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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