FIGURE

Fig. 3

ID

ZDB-FIG-241101-30

Publication

Shepherdson et al., 2024 - Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

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Fig. 3

Characterization of a family with an inherited ZFX variant (A) Facial features and extremities of probands 6A?6C (see text and supplemental information for additional details). (B) Three-generation pedigree of probands 6A?6C and family members. Dark black circles and squares indicate affected individuals; gray circles indicate carrier females diagnosed with hyperparathyroidism (except for III-1). A is the wild-type ZFX allele; G is the variant ZFX allele at same position (GRCh38 chrX: 24229396A>G, c.(2438A>G), p.Tyr774Cys). (C) Results of X-inactivation studies showing skewing in all carrier females and random inactivation in a noncarrier female (II-5).

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Am. J. Hum. Genet.