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Article

Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.

Clinical dysmorphology - 1 Jan 2022

Ocansey Sharon, Pullen Debbie, Atkinson Patricia, Clarke Antonia, Hadonou Medard, Crosby Charlene, Short John, Lloyd Ian Christopher, Smedley Damian, Assunta Albanese, Shah Pratik, McEntagart Meriel

Abstract excerpt

DNAJC3, a co-chaperone of BiP, is a member of the heat shock protein family. These proteins are produced in the endoplasmic reticulum (ER) to counter cell stress resulting from healthy functional protein processing. Dysregulation of unfolded proteins within the ER is implicated as a mechanism of genetic disease. Examples include Marinesco-Sjogren and Wolcott-Rallison syndromes that share similar clinical...

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PMID: 34654017
DOI: 10.1097/MCD.0000000000000397

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