[go: up one dir, main page]

Abnormalities, Multiple

"Abnormalities, Multiple" 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.

expand / collapse MeSH information
Congenital abnormalities that affect more than one organ or body structure.


expand / collapse Publications
This graph shows the total number of publications written about "Abnormalities, Multiple" by people in this website by year, and whether "Abnormalities, Multiple" was a major or minor topic of these publications.
Below are the most recent publications written about "Abnormalities, Multiple" by people in Profiles.
  1. 16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome. Genes (Basel). 2025 Jan 24; 16(2).
    View in: PubMed
  2. Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations. Ther Adv Respir Dis. 2025 Jan-Dec; 19:17534666241308405.
    View in: PubMed
  3. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. Am J Hum Genet. 2024 Aug 08; 111(8):1626-1642.
    View in: PubMed
  4. Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome. J Pediatr. 2024 Sep; 272:114101.
    View in: PubMed
  5. Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome. Clin Epigenetics. 2024 May 07; 16(1):62.
    View in: PubMed
  6. The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome. Proc Natl Acad Sci U S A. 2024 Mar 19; 121(12):e2317601121.
    View in: PubMed
  7. Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review. Am J Med Genet A. 2024 07; 194(7):e63567.
    View in: PubMed
  8. Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing. Am J Med Genet A. 2024 05; 194(5):e63516.
    View in: PubMed
  9. Functional dysregulation of the auditory cortex in bilateral perisylvian polymicrogyria: Multiparametric case analysis of the absent speech phenotype. Cortex. 2024 02; 171:423-434.
    View in: PubMed
  10. Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return. Eur J Hum Genet. 2023 12; 31(12):1430-1439.
    View in: PubMed