Musculoskeletal Abnormalities
"Musculoskeletal Abnormalities" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Congenital structural abnormalities and deformities of the musculoskeletal system.
| Descriptor ID |
D009139
|
| MeSH Number(s) |
C05.660 C16.131.621
|
| Concept/Terms |
|
Below are MeSH descriptors whose meaning is more general than "Musculoskeletal Abnormalities".
Below are MeSH descriptors whose meaning is more specific than "Musculoskeletal Abnormalities".
This graph shows the total number of publications written about "Musculoskeletal Abnormalities" by people in this website by year, and whether "Musculoskeletal Abnormalities" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 0 | 1 | 1 |
| 2003 | 1 | 0 | 1 |
| 2005 | 0 | 1 | 1 |
| 2007 | 0 | 1 | 1 |
| 2011 | 0 | 1 | 1 |
| 2012 | 1 | 0 | 1 |
| 2014 | 1 | 1 | 2 |
| 2016 | 1 | 0 | 1 |
| 2018 | 1 | 1 | 2 |
| 2019 | 3 | 3 | 6 |
| 2021 | 2 | 0 | 2 |
| 2022 | 5 | 0 | 5 |
| 2024 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Musculoskeletal Abnormalities" by people in Profiles.
-
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. Am J Hum Genet. 2024 04 04; 111(4):742-760.
-
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genet Med. 2023 01; 25(1):135-142.
-
Vascular Anomaly Syndromes in the ISSVA Classification System: Imaging Findings and Role of Interventional Radiology in Management. Radiographics. 2022 10; 42(6):1598-1620.
-
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Hum Mutat. 2022 12; 43(12):2033-2053.
-
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review. Birth Defects Res. 2022 08 01; 114(13):759-767.
-
Case Report of Angular Post-Tuberculotic Kyphosis Corrected Through Pedicle Subtraction Osteotomy Above C7. Oper Neurosurg (Hagerstown). 2022 01 01; 22(1):e53-e57.
-
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype. Genet Med. 2022 01; 24(1):179-191.
-
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 2021 09 02; 108(9):1669-1691.
-
VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features. Clin Genet. 2020 04; 97(4):644-648.
-
Genome-wide association studies of structural birth defects: A review and commentary. Birth Defects Res. 2019 11 01; 111(18):1329-1342.