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Article

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.

Nature genetics - 1 Oct 2006

Zara Federico, Biancheri Roberta, Bruno Claudio, Bordo Laura, Assereto Stefania, Gazzerro Elisabetta, Sotgia Federica, Wang Xiao Bo, Gianotti Stefania, Stringara Silvia, Pedemonte Marina, Uziel Graziella, Rossi Andrea, Schenone Angelo, Tortori-Donati Paolo, van der Knaap Marjo S, Lisanti Michael P, Minetti Carlo

Abstract excerpt

We describe a new autosomal recessive white matter disorder ('hypomyelination and congenital cataract') characterized by hypomyelination of the central and peripheral nervous system, progressive neurological impairment and congenital cataract. We identified mutations in five affected families, re...

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Identifiers

PMID: 16951682
DOI: 10.1038/ng1870

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16951682-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.PMID 16951682Read ↗

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