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) identifier identifier identifier

  • 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.