Situs Inversus
What's New
Last Posted: Jul 31, 2024
- Novel pathogenic variants of DNAH5 associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population.
Dalal A Al-Mutairi, et al. Frontiers in genetics 2024 0 1396797 - Investigation of the genetic and clinical features of laterality disorders in prenatal diagnosis: discovery of a novel compound heterozygous mutation in the DNAH11 gene.
Simin Zhang, et al. Archives of gynecology and obstetrics 2024 0 - Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center Study.
Noelia Rodriguez Mier, et al. Lung 2024 0 - A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect.
Wang Yu, et al. Prenatal diagnosis 2022 0 (3) 275-279 - High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
Shoemark Amelia, et al. Thorax 2017 0 (2) 157-166 - Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.
Best Sunayna, et al. Thorax 2018 0 (2) 203-205 - Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus.
Chen Xiangyu, et al. Experimental and therapeutic medicine 2020 0 (4) 3336-3342 - Primary Ciliary Dyskinesia: The Impact of Taste Receptor (TAS2R38) Gene Polymorphisms on Disease Outcome and Severity.
Piatti Gioia, et al. International archives of allergy and immunology 2020 0 (9) 727-731 - The genetics of situs inversus without primary ciliary dyskinesia.
Postema Merel C, et al. Scientific reports 2020 0 (1) 3677 - Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience.
Alzaid Mohammed, et al. International journal of pediatrics & adolescent medicine 2021 0 (4) 258-263
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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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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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