Cat Eye Syndrome
What's New
Last Posted: Jul 26, 2024
- Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases.
Xiali Jiang, et al. Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2024 0 (3) 9 - Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Guillaume Jedraszak et al. Am J Med Genet A 2023 - A Novel LC-MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot.
Cafaro Alessia, et al. Molecules (Basel, Switzerland) 2021 0 (18) - 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.
Lundin Johanna, et al. European journal of medical genetics 2010 0 (2) 61-5 - Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy.
Draaken Markus, et al. European journal of medical genetics 2010 0 (2) 55-60 - Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
Lalani SR, et al. European journal of human genetics : EJHG 2012 8 - Cat eye syndrome
From NCATS Genetic and Rare Diseases Information Center
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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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