Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Ectodermal dysplasia, anhidrotic, lymphedema and immunodeficiency

The syndrome with ectodermal dysplasia, anhidrotic, lymphedema, osteopetrosis, and immunodeficiency is an autosomal recessive disorder caused by mutations of the IKBKG gene.

Systematic

Ectodermal dysplasia and immunodeficiency
Ectodermal dysplasia and immunodeficiency 1
Ectodermal dysplasia and immunodeficiency 2
Ectodermal dysplasia, anhidrotic, lymphedema and immunodeficiency
IKBKG

References:

1.

Döffinger R et al. (2001) X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.

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Update: Aug. 14, 2020
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