FIGURE

Fig. 1

ID
ZDB-FIG-230831-13
Publication
Jackson et al., 2023 - Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
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Fig. 1

Genotype and phenotype of TSPEAR-related autosomal recessive ectodermal dysplasia

(A) Gene diagram showing all protein-coding variants identified in this study (top) and previously reported (bottom), mapped onto the known protein domains.

(B) Phenotype heatmap among newly and previously described cases showing a predominant dental phenotype.

(C) Images of individuals 2, 3, 5, 6, 9, and 11. Note conical-shaped and widely spaced teeth.

Expression Data

Expression Detail
Antibody Labeling
Phenotype Data

Phenotype Detail
Acknowledgments
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