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Aplasia cutis with autosomal recessive inheritance.
Biomarker and diagnostic research for aplasia cutis autosomal recessive has been reported in the published literature.
No clinical trials have been registered for aplasia cutis autosomal recessive.
39 publications have been identified in PubMed for aplasia cutis autosomal recessive. Research spans Case Report / Case Series (72%), Review / Meta-Analysis (13%), and Basic Science / Preclinical (10%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 28 | 72% |
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 6:00 PM UTC
Genetic and Rare Diseases Info Center
Research summaries
5 |
13% |
Laboratory research | 4 | 10% |
Testing and diagnosis research | 1 | 3% |
Disease patterns and progression | 1 | 3% |
Ahmadkhani A (2026). [PMID: 41486137](https://pubmed.ncbi.nlm.nih.gov/41486137/). *J Med Case Rep*. [Review / Meta-Analysis]
Kalayinia S (2026). [PMID: 40354009](https://pubmed.ncbi.nlm.nih.gov/40354009/). *Biochem Genet*. [Case Report / Case Series]
Kalaszi M (2026). [PMID: 41970645](https://pubmed.ncbi.nlm.nih.gov/41970645/). *Front Genet*. [Case Report / Case Series]
Abukammas SJ (2026). [PMID: 41846647](https://pubmed.ncbi.nlm.nih.gov/41846647/). *Cureus*. [Case Report / Case Series]
Xu Y (2026). [PMID: 41640519](https://pubmed.ncbi.nlm.nih.gov/41640519/). *Front Med (Lausanne)*. [Case Report / Case Series]
Kovalskaia VA (2026). [PMID: 41645317](https://pubmed.ncbi.nlm.nih.gov/41645317/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Vergani D (2026). [PMID: 41195743](https://pubmed.ncbi.nlm.nih.gov/41195743/). *Am J Med Genet A*. [Basic Science / Preclinical]
He Y (2026). [PMID: 41959640](https://pubmed.ncbi.nlm.nih.gov/41959640/). *Glob Med Genet*. [Basic Science / Preclinical]
Kocagil S (2026). [PMID: 42137187](https://pubmed.ncbi.nlm.nih.gov/42137187/). *Mol Syndromol*. [Case Report / Case Series]
Aljeaid D (2026). [PMID: 42144731](https://pubmed.ncbi.nlm.nih.gov/42144731/). *Mol Genet Genomic Med*. [Case Report / Case Series]