Last Posted: Apr 29, 2018
- Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
Alby Caroline, et al. American journal of medical genetics. Part A 2018 5 (5) 1091-1098
- Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound.
de Wit M C et al. Prenatal diagnosis 2017 Sep
- Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean.
Tardif Jessica et al. Prenatal diagnosis 2017 Apr
- SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
Heimer G, et al. Clinical genetics 2015 10 (4) 327-35
- Clinical utility gene card for: Vici Syndrome.
- Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Sajan Samin A, et al. PLoS genetics 2013 0 (10) e1003823
- Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
Osbun Nathan, et al. American journal of medical genetics. Part A 2011 8 (8) 1865-76
- Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
Nemos C, et al. Clinical genetics 2009 10 (4) 357-71
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
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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.