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Found 22 publications

Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia.

Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights.

Incontinentia pigmenti in a newborn boy.

Rare diagnosis of Melkersson-Rosenthal syndrome in a paediatric patient.

Genetic testing and genotype-phenotype analysis for a child with X-linked hypohidrotic ectodermal dysplasia.

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?

Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis.

Clinical and genetic analysis of a child with X-linked hypohidrotic ectodermal dysplasia.

Ocular manifestations of ectodermal dysplasia.

Aplasia Cutis Congenita: A Case Report.

Late survival in Ellis-van Creveld syndrome with common single atrium.

Phenotypic and genetic analysis of a case with hypohidrotic ectodermal dysplasia due to Xq13.1 microdeletion.

Showing 1-12 of 22