Hypomyelination and Congenital Cataract Broadening the Clinical Phenotype

BIANCHERI, Roberta; ZARA, Federico; ROSSI, Andrea; MATHOT, Mikael; NASSOGNE, Marie; Yalcinkaya, Cengiz; Erturk, Ozdem; Tuysuz, Beyhan; DI ROCCO, Maja; GAZZERRO, Elisabetta; Bugiani, Marianna; van Spaendonk, Resie; Sistermans, Erik; MINETTI, Carlo; van der Knaap, Marjo; Wolf, Nicole

doi:10.1001/archneurol.2011.201

Hypomyelination and Congenital Cataract Broadening the Clinical Phenotype

BIANCHERI R., ZARA F., ROSSI A., MATHOT M., NASSOGNE M. C., Yalcinkaya C., ...More

ARCHIVES OF NEUROLOGY, vol.68, no.9, pp.1191-1194, 2011 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 68 Issue: 9
Publication Date: 2011
Doi Number: 10.1001/archneurol.2011.201
Journal Name: ARCHIVES OF NEUROLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.1191-1194
Istanbul University Affiliated: Yes

Abstract

Objective: To further delineate the clinical spectrum of hypomyelination and congenital cataract (HCC), a rare autosomal recessive white matter disorder due to deficiency of a membrane protein, hyccin, encoded by FAM126A.