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Article

Phenotypic characterization of hypomyelination and congenital cataract.

Annals of neurology - 1 Aug 2007

Biancheri Roberta, Zara Federico, Bruno Claudio, Rossi Andrea, Bordo Laura, Gazzerro Elisabetta, Sotgia Federica, Pedemonte Marina, Scapolan Sara, Bado Massimo, Uziel Graziella, Bugiani Marianna, Lamba Laura Doria, Costa Valeria, Schenone Angelo, Rozemuller Annemieke J M, Tortori-Donati Paolo, Lisanti Michael P, van der Knaap Marjo S, Minetti Carlo

Abstract excerpt

OBJECTIVE: To define the clinical and laboratory findings in a novel autosomal recessive white matter disorder called hypomyelination and congenital cataract, recently found to be caused by a deficiency of a membrane protein, hyccin, encoded by the DRCTNNB1A gene located on chromosome 7p21.3-p15....

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Identifiers

PMID: 17683097
DOI: 10.1002/ana.21175

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17683097-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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