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SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen.
Biomarker and diagnostic research for SLC10A7-congenital disorder of glycosylation has been reported in the published literature.
No clinical trials have been registered for SLC10A7-congenital disorder of glycosylation.
201 publications have been identified in PubMed for SLC10A7-congenital disorder of glycosylation. Kisho has analyzed 142 by research type. Research spans Review / Meta-Analysis (47%), Basic Science / Preclinical (42%), and Diagnostic / Biomarker (4%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 67 | 47% |
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 11:34 PM UTC
Common questions about SLC10A7-congenital disorder of glycosylation
Laboratory research |
59 |
42% |
Testing and diagnosis research | 6 | 4% |
Disease patterns and progression | 5 | 4% |
Patient case studies | 3 | 2% |
Other research | 1 | 1% |
New treatment approaches | 1 | 1% |
Yi L (2026). [PMID: 41264770](https://pubmed.ncbi.nlm.nih.gov/41264770/). *Protein Cell*. [Review / Meta-Analysis]
Ünsal Y (2026). [PMID: 39975416](https://pubmed.ncbi.nlm.nih.gov/39975416/). *J Clin Res Pediatr Endocrinol*. [Review / Meta-Analysis]
Balakrishnan A (2026). [PMID: 42025102](https://pubmed.ncbi.nlm.nih.gov/42025102/). *Biochim Biophys Acta Gen Subj*. [Review / Meta-Analysis]
Quelhas D (2026). [PMID: 41554664](https://pubmed.ncbi.nlm.nih.gov/41554664/). *J Inherit Metab Dis*. [Review / Meta-Analysis]
Li Y (2025). [PMID: 40609958](https://pubmed.ncbi.nlm.nih.gov/40609958/). *Biochim Biophys Acta Mol Cell Res*. [Basic Science / Preclinical]
Yang Y (2025). [PMID: 39808852](https://pubmed.ncbi.nlm.nih.gov/39808852/). *J Autoimmun*. [Review / Meta-Analysis]
Bhargava R (2025). [PMID: 40297959](https://pubmed.ncbi.nlm.nih.gov/40297959/). *Arthritis Rheumatol*. [Basic Science / Preclinical]
Noel M (2025). [PMID: 41071116](https://pubmed.ncbi.nlm.nih.gov/41071116/). *Glycobiology*. [Review / Meta-Analysis]
Alharbi H (2025). [PMID: 39923392](https://pubmed.ncbi.nlm.nih.gov/39923392/). *Mol Genet Metab*. [Epidemiology / Natural History]
Prakash S (2025). [PMID: 40153534](https://pubmed.ncbi.nlm.nih.gov/40153534/). *J Clin Invest*. [Basic Science / Preclinical]