Chiari Malformation Type 4
What's New
Last Posted: Feb 14, 2023
- On the association between Chiari malformation type 1, bone mineral density and bone related genes.
Martínez-Gil Núria, et al. Bone reports 2022 0 101181 - Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.
Urbizu Aintzane, et al. PloS one 2021 0 (5) e0251289 - Genome-wide identification of Chiari malformation type I associated candidate genes and chromosomal variations.
Av?ar Timuçin, et al. Turkish journal of biology = Turk biyoloji dergisi 2020 0 (6) 449-456 - Chiari malformation type I: a case-control association study of 58 developmental genes.
Urbizu Aintzane, et al. PloS one 2013 0 (2) e57241 - Chiari malformation type 2
From NCATS Genetic and Rare Diseases Information Center - Chiari malformation type 3
From NCATS Genetic and Rare Diseases Information Center - Chiari malformation type 4
From NCATS Genetic and Rare Diseases Information Center
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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
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
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- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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