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Article

Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.

Clinical genetics - 1 Apr 2021

Mor-Shaked Hagar, Salah Somaya, Yanovsky-Dagan Shira, Meiner Vardiella, Atawneh Osama M, Abu-Libdeh Bassam, Elpeleg Orly, Harel Tamar

Abstract excerpt

Calpainopathies constitute a heterogeneous group of disorders resulting from deficiencies in calpains, calcium-specific proteases that modulate substrates by limited proteolysis. Clinical manifestations depend on tissue-specific expression of the defective calpain and substrate specificity. CAPN15, encoding the Drosophila small optic lobes (sol) homolog, was recently found to cause various eye defects in...

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PMID: 33410501
DOI: 10.1111/cge.13920

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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