Distal Arthrogryposis
What's New
Last Posted: Apr 16, 2024
- Bone mineral density in adults with arthrogryposis multiplex congenita: a retrospective cohort analysis.
X Romand, et al. Scientific reports 2024 0 (1) 8206 - ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant.
Mounika Endrakanti, et al. American journal of medical genetics. Part A 2024 0 e63592 - Long term ophthalmic complications of distal arthrogryposis type 5D.
Cohen Dana, et al. Ophthalmic genetics 2022 0 (1) 28-34 - Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Ravenscroft Gina et al. Journal of medical genetics 2020 Oct - Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.
Weymouth Katelyn S, et al. American journal of medical genetics. Part A 2011 9 (9) 2170-9 - Distal arthrogryposis
From NCATS Genetic and Rare Diseases Information Center - Distal arthrogryposis type 1
From NCATS Genetic and Rare Diseases Information Center - Distal arthrogryposis type 5
From NCATS Genetic and Rare Diseases Information Center - Distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies
From NCATS Genetic and Rare Diseases Information Center - Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot.
Shyy William, et al. Journal of pediatric orthopedics 0 0 (3) 231-4
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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
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:May 18, 2024
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