ectodermal dysplasias
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#