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ectodermal dysplasias

Thursday 20 November 2003

Types

- X-linked anhidrotic ectodermal dysplasia
- APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy)

Features

- anomalies of epithelial development (epithelial organogenesis)

References

- Itin PH, Fistarol SK. Ectodermal dysplasias. Am J Med Genet. 2004 Nov 15;131C(1):45-51. PMID: 15468153

- Smahi A, Courtois G, Rabia SH, Doffinger R, Bodemer C, Munnich A, Casanova JL, Israel A. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet. 2002 Oct 1;11(20):2371-5. PMID: 12351572

- Kere J, Elomaa O. Healing a natural knockout of epithelial organogenesis. Trends Mol Med. 2002 May;8(5):197-200. PMID: 12067623