FIGURE

Figure 1.

ID

ZDB-FIG-260413-10

Publication

Owrang et al., 2025 - Uncovering Dual Molecular Diagnoses in Families with Complex Phenotypes through Structural and Clinical Study of Novel COL4A6 Variants

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Figure 1.

Audiometric data and genetic diagnoses. (A) Pedigree of family 1 and (B) pedigree of family 2 with symbols representing various clinical features below. The proband of each family is marked with an arrow, and the genetic variants (in red) identified with their segregation are shown. (C) Audiogram of three members of family 2. (D) Segregation of the homozygous DYM (c.1125 + 1G>T) and hemizygous COL4A6 (c.1767G>A) variants in family 2. Sequences are shown for the proband (IV:4), parents (III:1 and III:2), and sibling (IV:1). Abbreviation: ENND, early neonatal period death (septicemia).

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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