Pachygyria
What's New
Last Posted: Mar 03, 2023
- Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Polla Daniel L, et al. European journal of human genetics : EJHG 2019 0 (8) 1235-1243 - Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations.
Accogli Andrea, et al. Seizure 2020 0 145-152 - Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Di Donato Nataliya, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 4 - A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract.
Hertecant Jozef, et al. Meta gene 2016 9 124-7 - Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Di Donato Nataliya, et al. American journal of medical genetics. Part A 2016 5 - Rare ACTG1 variants in fetal microlissencephaly.
Poirier Karine, et al. European journal of medical genetics 2015 8 (8) 416-8 - Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.
Guerrini Renzo, et al. European journal of human genetics : EJHG 2012 9 (9) 995-8 - Agyria pachygyria polymicrogyria
From NCATS Genetic and Rare Diseases Information Center - Agyria-pachygyria type 1
From NCATS Genetic and Rare Diseases Information Center - Pachygyria
From NCATS Genetic and Rare Diseases Information Center
More
About Rare Diseases PHGKB
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
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
- Page last updated:Mar 27, 2024
- Content source: