FIGURE

Fig. 2

ID

ZDB-FIG-241121-26

Publication

Cort�s-Gonz�lez et al., 2024 - Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans

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Fig. 2

Clinical features associated with the c.800 C > T FZD5 variant. (A)The family pedigree and segregation analysis reveal homozygosity for the NM_003468.4; c.800 C > T variant in the affected individual (II-1) and heterozygosity for the c.800 C > T variant in her parents (I-1 and I-2), siblings (II-2 and II-3), and daughter (III-1). (B) Photograph of the proband (1–4). (1) Demonstrated brachycephaly, facial asymmetry with freckles, strabismus, telecanthus, and epicanthus. (2) Hands exhibiting brachydactyly and slender fingers. (3) anterior segment of the right eye with iris coloboma and microcornea. (4) fundoscopy of the right eye demonstrated retinal and optic nerve coloboma

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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