HIGHLIGHTS
- who: LAMB and colleagues from the Wuhan University, China have published the article: Rare compound heterozygous variants of and histological features of enamel and oral mucosa, in the Journal: (JOURNAL)
- how: The authors employed whole-exome sequencing (WES) to identify the pathogenic variants in an intermediate JEB patient with hypoplastic AI.
- future: Studies are needed to confirm this finding and to identify the distinct functional role of LAMB3 in the amelogenesis of primary and permanent teeth.
SUMMARY
Junctional epidermolysis bullosa (JEB) is a group of autosomal recessive disorders characterized . . .
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