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- Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
- Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up
- Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
- Store-operated calcium channels in skin
- Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
- Novel missense mutation in the EDA gene in a family affected by oligodontia
- 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
- WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation
- Molecular basis of hypohidrotic ectodermal dysplasia: an update
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