IMAGE

Figure 1.

ID
ZDB-IMAGE-260413-20
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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Figures for Owrang et al., 2025
Image
Figure Caption

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).

Acknowledgments
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