Related Experiment Video

Updated: Oct 1, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans

Asodu Sandeep Sarma1, Neta Barnoy1, Prakadeeswari Gopalakrishnan1

  • 1Division of Ophthalmology, Hadassah Medical Centre, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

Clinical Genetics
|September 30, 2026
PubMed

Keywords:
KHDC4retinasplicingsyndromic IRDszebrafish

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