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Article

A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation.

Clinical dysmorphology - 1 Jan 2017

Dursun Ali, Yalnizoglu Dilek, Gerdan Omer F, Yucel-Yilmaz Didem, Sagiroglu Mahmut S, Yuksel Bayram, Gucer Safak, Sivri Serap, Ozgul Riza K

Abstract excerpt

We present a novel multisystem disease in two siblings with clinical features resembling a lysosomal storage disease. These included coarse face, dysostosis multiplex, respiratory difficulty, proteinuria with glomerular foamy cells, neurological involvement with developmental delays, pyramidal signs, and severe chronic anemia. Detailed enzymatic analysis for lysosomal diseases and whole-exome sequencing studies...

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PMID: 27547915
DOI: 10.1097/MCD.0000000000000149

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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