A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia.

Conclusion: We identified a novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked HED. The difference between our patient's symptoms and those recorded for some previous subjects may be due to the differences in the mutations involved.
PMID: 31452656 [PubMed - in process]

Source: Cellular and Molecular Biology Letters - August 29, 2019 Category: Biochemistry Authors: Rahbaran M, Hassani Doabsari M, Salavitabar S, Mokhberian N, Morovvati Z, Morovvati S Tags: Cell Mol Biol Lett Source Type: research