Hypohidrotic ectodermal dysplasia?

Does anyone know when hypohidrotic ectodermal dysplasia was discovered? please include your resources. Thank you!!!

1 Answer

  • 1 decade ago
    Favorite Answer

    Anna - X-linked anhidrotic (hypohidrotic) ectodermal dysplasia (EDA; MIM 305100) is one of the more common types of over 150 clinically distinct hereditary ectodermal dysplasias. It is characterized by sparse hair, abnormal or missing teeth, and an inability to sweat due to the lack of sweat glands (Freire-Maia & Piñeiro 1994).

    Ferguson, BM, Thomas, NST, Munoz, F, Morgan, D, Clake, A, Zonana, J: Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. J Med Genet 1998 35: 112–115, | PubMed | ISI | ChemPort |

    Freire-Maia, N, Piñeiro, M: Ectodermal dysplasias: a clinical classification and a causal review. Am J Med Genet 1994 53: 153–162, | PubMed | ISI | ChemPort |

    Kere, J, Srivastava, AK, Montonen, O: et al: X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nature Genet 1996 13: 409–416, | Article |

    Source(s): a medical professional
Still have questions? Get your answers by asking now.