FIGURE

FIGURE 1

ID

ZDB-FIG-250207-33

Publication

Toms et al., 2024 - A Novel De Novo Missense Variant in Netrin-1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly

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FIGURE 1

Clinical features of the patient with a heterozygous missense variant c.1483T>A p.(Tyr495Asn) in NTN1. (A) Facial photo showing unilateral left microphthalmia and microcornea. (B) Widefield colour fundus imaging showing extensive left chorioretinal coloboma involving the optic disc and macula, right fundus is normal. (C) Clinical photograph of both hands with white arrow pointing to right hand indicating site of extra digit (polydactyly), which was surgically removed from between ring and little finger.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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