Hypomyelination and Congenital Cataract Broadening the Clinical Phenotype

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

ARCHIVES OF NEUROLOGY, cilt.68, sa.9, ss.1191-1194, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 68 Sayı: 9
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1001/archneurol.2011.201
  • Dergi Adı: ARCHIVES OF NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1191-1194
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.