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First Report of X-Linked Hypohidrotic Ectodermal Dysplasia with a Hemizygous c.1142G >C in the EDA Gene: Variant of Uncertain Significance or New Pathogenic Variant?

2021-01-16

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<title>Abstract</title> <p>BackgroundHypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease. XLHED Is characterized by hypotrichosis, hypohydrosis and hypodontia. The cardinal features of classic HED become obvious during childhood. Identification of a hemizygous EDA pathogen...

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Literature Corpus work: 1744d77c-caa9-5b0b-b44e-7600cfe5a5dc
DOI: 10.21203/rs.3.rs-146699/v1

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First Report of X-Linked Hypohidrotic Ectodermal Dysplasia with a Hemizygous c.1142G >C in the EDA Gene: Variant of Uncertain Significance or New Pathogenic Variant?DOI 10.21203/rs.3.rs-146699/v1Read

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First Report of X-Linked Hypohidrotic Ectodermal Dysplasia with a Hemizygous c.1142G &gt;C in the EDA Gene: Variant of Uncertain Significance or New Pathogenic Variant?

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Related research

First Report of X-Linked Hypohidrotic Ectodermal Dysplasia with a Hemizygous c.1142G >C in the EDA Gene: Variant of Uncertain Significance or New Pathogenic Variant?