Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM

TÜYSÜZ B., Ercan-Sencicek A. G., ÖZER E., Goc N., Yalcinkaya C., Bilguvar K.

TURKISH ARCHIVES OF PEDIATRICS, vol.57, no.5, pp.521-525, 2022 (ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 57 Issue: 5
  • Publication Date: 2022
  • Doi Number: 10.5152/turkarchpediatr.2022.22070
  • Journal Name: TURKISH ARCHIVES OF PEDIATRICS
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.521-525
  • Keywords: L1CAM, hydrocephalus, adducted thumbs, corpus callosum agenesis, intellectual disability, L1, DISEASE
  • Istanbul University Affiliated: Yes

Abstract

Objective: The study aimed to show the clinical characteristics and prognosis of the L1 syndrome in patients with L1CAM mutations in the extracellular region.