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Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN....<br/>Year introduced: 2007
MeSH
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Neurocutaneous Syndromes
Neurocutaneous Syndromes
A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.<br/>Year introduced: 2000
MeSH
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Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may...<br/>Year introduced: 2008
MeSH
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