< em > PNPLA6 < /em > disorders: what's in a name?

CONCLUSIONS: Clinicians should be aware of choroideremia-like ocular presentation in patients who also experience growth defects, motor dysfunction, and/or hair anomalies. Although NTE biochemistry is well characterized, further research on the relationship between genotype and the presence or absence of retinopathy should be explored to improve diagnosis and prognosis.PMID:37732399 | DOI:10.1080/13816810.2023.2254830
Source: Ophthalmic Genetics - Category: Opthalmology Authors: Source Type: research