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Biomarker and diagnostic research for isolated exencephaly has been reported in the published literature.
No clinical trials have been registered for isolated exencephaly.
64 publications have been identified in PubMed for isolated exencephaly. Research spans Epidemiology / Natural History (33%), Case Report / Case Series (17%), and Basic Science / Preclinical (14%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 21 | 33% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 1:11 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies
11 |
17% |
Laboratory research | 9 | 14% |
Research summaries | 7 | 11% |
New treatment approaches | 5 | 8% |
Testing and diagnosis research | 4 | 6% |
Clinical study results | 4 | 6% |
Other research | 3 | 5% |
Blair J (2026). [PMID: 41943597](https://pubmed.ncbi.nlm.nih.gov/41943597/). *Am J Med Genet A*. [Epidemiology / Natural History]
Muniz NF (2026). [PMID: 41880415](https://pubmed.ncbi.nlm.nih.gov/41880415/). *Rev Paul Pediatr*. [Epidemiology / Natural History]
De Dominicis C (2026). [PMID: 42029673](https://pubmed.ncbi.nlm.nih.gov/42029673/). *Endocr Rev*. [Epidemiology / Natural History]
Simcock IC (2026). [PMID: 41793079](https://pubmed.ncbi.nlm.nih.gov/41793079/). *Prenat Diagn*. [Diagnostic / Biomarker]
Kancherla V (2026). [PMID: 41673516](https://pubmed.ncbi.nlm.nih.gov/41673516/). *Birth Defects Res*. [Epidemiology / Natural History]
Valle-Bautista R (2026). [PMID: 41609037](https://pubmed.ncbi.nlm.nih.gov/41609037/). *J Integr Neurosci*. [Basic Science / Preclinical]
Botvinik A (2026). [PMID: 41714291](https://pubmed.ncbi.nlm.nih.gov/41714291/). *Prenat Diagn*. [Epidemiology / Natural History]
Alataş I (2026). [PMID: 41639468](https://pubmed.ncbi.nlm.nih.gov/41639468/). *Childs Nerv Syst*. [Basic Science / Preclinical]
Tattersall N (2026). [PMID: 41339293](https://pubmed.ncbi.nlm.nih.gov/41339293/). *J Med Radiat Sci*. [Diagnostic / Biomarker]
Bijok J (2026). [PMID: 41753031](https://pubmed.ncbi.nlm.nih.gov/41753031/). *J Clin Med*. [Diagnostic / Biomarker]