[A family with X-linked hydrocephalus resulting from mutations in the neural cell adhesion molecule L1].

Article

[A family with X-linked hydrocephalus resulting from mutations in the neural cell adhesion molecule L1].

Rinsho shinkeigaku = Clinical neurology - 1 Mar 1996

Maruta K, Ohi T, Ohdo S, Takechi T, Sakuragawa N, Matsukura S

Abstract excerpt

We present the two siblings with X-linked hydrocephalus (XLH) and discuss the clinical features and genetical analysis of them. Case 1. The proband, a male, was delivered by the emergency cesarean section because of enlarged head circumference (44cm). His head circumference at 24 years old was 92...

Topics

Adult
Family Health
Genetic Linkage
Humans
Hydrocephalus
Leukocyte L1 Antigen Complex
Male
Mutation
Neural Cell Adhesion Molecules
Pedigree
X Chromosome

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.