Skip to main content
Fig. 2 | Allergy, Asthma & Clinical Immunology

Fig. 2

From: Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

Fig. 2

Family pedigree and the EDA c.766C > T (p.Q256*) variant. a Family pedigree. b Sanger sequencing of whole blood from the male index patient (III-4), the mother (II-2) and a healthy female control showing that the index (III-4) is hemizygous for the EDA c.766C > T variant whereas the mother (II-2) is heterozygous. The female healthy control shown here is homozygous for the reference allele. c Representative structure of the EDA protein (full-length EDA-A1 isoform with 391 amino acids) showing the position of the p.Q256* variant within the TNF domain

Back to article page

Allergy, Asthma & Clinical Immunology

ISSN: 1710-1492

Contact us